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dbVar

Database of genomic structural variation

nsv6448624

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:2,900

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: 371 SVs from 48 studies. See in: genome view

Submitted genomic66,163,101-66,166,000

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6448624	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000009.12	Chr9	66,163,101	66,166,000
nsv6448624	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	43,143,679	43,146,578

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18227537	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18227537	Submitted genomic		NC_000009.12:g.661 63101_66166000dup	GRCh38 (hg38)		NC_000009.12	Chr9	66,163,101	66,166,000
nssv18227537	Remapped	Perfect	NC_000009.11:g.431 43679_43146578dup	GRCh37.p13	First Pass	NC_000009.11	Chr9	43,143,679	43,146,578

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)
nssv18227537	0.002	50	32598

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