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dbVar

Database of genomic structural variation

nsv6513499

Organism: Homo sapiens

Study:nstd223 (Sedlazeck et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:159,710

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: 578 SVs from 55 studies. See in: genome view

Submitted genomic41,313,417-41,473,126

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6513499	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000015.10	Chr15	41,313,417	41,473,126
nsv6513499	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000015.9	Chr15	41,605,615	41,765,324

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18194955	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18194955	Submitted genomic		NC_000015.10:g.413 13417_41473126dup	GRCh38 (hg38)		NC_000015.10	Chr15	41,313,417	41,473,126
nssv18194955	Remapped	Perfect	NC_000015.9:g.4160 5615_41765324dup	GRCh37.p13	First Pass	NC_000015.9	Chr15	41,605,615	41,765,324

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)
nssv18194955	<0.001	1	39242

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