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dbVar

Database of genomic structural variation

nsv7035302

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:54

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: 163 SVs from 27 studies. See in: genome view

Submitted genomic37,860,884-37,860,937

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7035302	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	37,860,884	37,860,937
nsv7035302	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	39,233,186	39,233,239

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18437663	deletion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18437663	Submitted genomic		NC_000021.9:g.3786 0884_37860937del	GRCh38 (hg38)		NC_000021.9	Chr21	37,860,884	37,860,937
nssv18437663	Remapped	Perfect	NC_000021.8:g.3923 3186_39233239del	GRCh37.p13	First Pass	NC_000021.8	Chr21	39,233,186	39,233,239

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv18437663	0.34	86263	255532

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