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dbVar

Database of genomic structural variation

nsv6527923

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:360,132

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: 1001 SVs from 70 studies. See in: genome view

Submitted genomic64,618,994-64,979,125

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6527923	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	64,618,994	64,979,125
nsv6527923	Remapped	Pass	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	62,649,313	62,975,243

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18195479	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18195479	Submitted genomic		NC_000017.11:g.646 18994_64979125dup	GRCh38 (hg38)		NC_000017.11	Chr17	64,618,994	64,979,125
nssv18195479	Remapped	Pass	NC_000017.10:g.626 49313_62975243dup	GRCh37.p13	First Pass	NC_000017.10	Chr17	62,649,313	62,975,243

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)
nssv18195479	<0.001	2	39244

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