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dbVar

Database of genomic structural variation

nsv4706130

Organism: Homo sapiens

Study:nstd195 (Mwapagha et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:2

Publication(s):Mwapagha et al. 2021

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 174 SVs from 37 studies. See in: genome view

Remapped(Score: Perfect):77,239,866-77,239,867

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4706130	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	77,239,866	77,239,867
nsv4706130	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NW_003315955.1	Chr17\|NW_0 03315955.1	30,759	30,760
nsv4706130	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	75,235,948	75,235,949

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv16235053	deletion	M456	Sequencing	Paired-end mapping	1	4,735
nssv16240398	deletion	M478	Sequencing	Paired-end mapping	1	4,557
nssv16250927	deletion	B450	Sequencing	Paired-end mapping	1	4,473

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16235053	Remapped	Perfect	NW_003315955.1:g.3 0759_30760del	GRCh38.p12	Second Pass	NW_003315955.1	Chr17\|NW_0 03315955.1	30,759	30,760
nssv16240398	Remapped	Perfect	NW_003315955.1:g.3 0759_30760del	GRCh38.p12	Second Pass	NW_003315955.1	Chr17\|NW_0 03315955.1	30,759	30,760
nssv16250927	Remapped	Perfect	NW_003315955.1:g.3 0759_30760del	GRCh38.p12	Second Pass	NW_003315955.1	Chr17\|NW_0 03315955.1	30,759	30,760
nssv16235053	Remapped	Perfect	NC_000017.11:g.772 39866_77239867del	GRCh38.p12	First Pass	NC_000017.11	Chr17	77,239,866	77,239,867
nssv16240398	Remapped	Perfect	NC_000017.11:g.772 39866_77239867del	GRCh38.p12	First Pass	NC_000017.11	Chr17	77,239,866	77,239,867
nssv16250927	Remapped	Perfect	NC_000017.11:g.772 39866_77239867del	GRCh38.p12	First Pass	NC_000017.11	Chr17	77,239,866	77,239,867
nssv16235053	Submitted genomic		NC_000017.10:g.752 35948_75235949del	GRCh37 (hg19)		NC_000017.10	Chr17	75,235,948	75,235,949
nssv16240398	Submitted genomic		NC_000017.10:g.752 35948_75235949del	GRCh37 (hg19)		NC_000017.10	Chr17	75,235,948	75,235,949
nssv16250927	Submitted genomic		NC_000017.10:g.752 35948_75235949del	GRCh37 (hg19)		NC_000017.10	Chr17	75,235,948	75,235,949

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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