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dbVar

Database of genomic structural variation

nsv6642471

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:3,680

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: 138 SVs from 34 studies. See in: genome view

Submitted genomic154,185,192-154,188,871

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6642471	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	154,185,192	154,188,871
nsv6642471	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	154,157,668	154,161,347

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18363579	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
nssv18363579	Submitted genomic		NC_000001.11:g.154 185192_154188871de l	GRCh38 (hg38)		NC_000001.11	Chr1	154,185,192	154,188,871
nssv18363579	Remapped	Perfect	NC_000001.10:g.154 157668_154161347de l	GRCh37.p13	First Pass	NC_000001.10	Chr1	154,157,668	154,161,347

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)
nssv18363579	0.018	4499	252766

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