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dbVar

Database of genomic structural variation

nsv6658991

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:72

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: 137 SVs from 21 studies. See in: genome view

Submitted genomic36,946,152-36,946,223

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6658991	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	36,946,152	36,946,223
nsv6658991	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	37,173,295	37,173,366

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18464612	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
nssv18464612	Submitted genomic		NC_000002.12:g.369 46152_36946223del	GRCh38 (hg38)		NC_000002.12	Chr2	36,946,152	36,946,223
nssv18464612	Remapped	Perfect	NC_000002.11:g.371 73295_37173366del	GRCh37.p13	First Pass	NC_000002.11	Chr2	37,173,295	37,173,366

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)
nssv18464612	0.006	1397	243636

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