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dbVar

Database of genomic structural variation

nsv4750407

Organism: Homo sapiens

Study:nstd199 (Quan et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:175

Publication(s):Quan 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: 408 SVs from 42 studies. See in: genome view

Remapped(Score: Perfect):79,966,617-79,966,791

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4750407	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	79,966,617	79,966,791
nsv4750407	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187635.1	ChrX\|NT_18 7635.1	142,569	142,743
nsv4750407	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	79,222,116	79,222,290

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16293745	deletion	Sequencing	Split read mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16293745	Remapped	Perfect	NT_187635.1:g.1425 69_142743del	GRCh38.p12	Second Pass	NT_187635.1	ChrX\|NT_18 7635.1	142,569	142,743
nssv16293745	Remapped	Perfect	NC_000023.11:g.799 66617_79966791del	GRCh38.p12	First Pass	NC_000023.11	ChrX	79,966,617	79,966,791
nssv16293745	Submitted genomic		NC_000023.10:g.792 22116_79222290del	GRCh37 (hg19)		NC_000023.10	ChrX	79,222,116	79,222,290

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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