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dbVar

Database of genomic structural variation

nsv4898405

Organism: Homo sapiens

Study:nstd200 (Abel et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:144

Publication(s):Abel et al. 2020

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: 168 SVs from 45 studies. See in: genome view

Submitted genomic207,686,030-207,686,174

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4898405	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	207,686,030	207,686,173 (-1, +1)
nsv4898405	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	207,859,375	207,859,518 (-1, +1)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16425551	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16425551	Submitted genomic		NC_000001.11:g.207 686030_(207686172_ 207686174)del	GRCh38 (hg38)		NC_000001.11	Chr1	207,686,030	207,686,173 (-1, +1)
nssv16425551	Remapped	Perfect	NC_000001.10:g.207 859375_(207859517_ 207859519)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	207,859,375	207,859,518 (-1, +1)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16425551	<0.001	3	29246

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