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dbVar

Database of genomic structural variation

nsv6603104

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:2,400

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: 116 SVs from 23 studies. See in: genome view

Submitted genomic110,597,001-110,599,400

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6603104	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	110,597,001	110,599,400
nsv6603104	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	110,918,204	110,920,603

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18136684	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18136684	Submitted genomic		NC_000006.12:g.110 597001_110599400de l	GRCh38 (hg38)		NC_000006.12	Chr6	110,597,001	110,599,400
nssv18136684	Remapped	Perfect	NC_000006.11:g.110 918204_110920603de l	GRCh37.p13	First Pass	NC_000006.11	Chr6	110,918,204	110,920,603

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)
nssv18136684	<0.001	2	39036

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