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dbVar

Database of genomic structural variation

nsv6647368

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:502

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: 512 SVs from 44 studies. See in: genome view

Submitted genomic2,211,693-2,212,194

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6647368	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	2,211,693	2,212,194
nsv6647368	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	2,143,132	2,143,633

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18607268	duplication	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
nssv18607268	Submitted genomic		NC_000001.11:g.221 1693_2212194dup	GRCh38 (hg38)		NC_000001.11	Chr1	2,211,693	2,212,194
nssv18607268	Remapped	Perfect	NC_000001.10:g.214 3132_2143633dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	2,143,132	2,143,633

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)
nssv18607268	0.138	23470	166666

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