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dbVar

Database of genomic structural variation

nsv5536263

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:92

Publication(s):Byrska-Bishop et al. 2022

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: 174 SVs from 24 studies. See in: genome view

Submitted genomic39,428,491-39,428,582

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5536263	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	39,428,491	39,428,582
nsv5536263	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	40,800,417	40,800,508

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17726891	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17726891	Submitted genomic		NC_000021.9:g.3942 8491_39428582dup	GRCh38 (hg38)		NC_000021.9	Chr21	39,428,491	39,428,582
nssv17726891	Remapped	Perfect	NC_000021.8:g.4080 0417_40800508dup	GRCh37.p13	First Pass	NC_000021.8	Chr21	40,800,417	40,800,508

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)
nssv17726891	0.002	13	6404

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