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dbVar

Database of genomic structural variation

nsv6441034

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:1,900

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

Submitted genomic88,827,301-88,829,200

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6441034	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000010.11	Chr10	88,827,301	88,829,200
nsv6441034	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	90,587,058	90,588,957

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17984296	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17984296	Submitted genomic		NC_000010.11:g.888 27301_88829200del	GRCh38 (hg38)		NC_000010.11	Chr10	88,827,301	88,829,200
nssv17984296	Remapped	Perfect	NC_000010.10:g.905 87058_90588957del	GRCh37.p13	First Pass	NC_000010.10	Chr10	90,587,058	90,588,957

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)
nssv17984296	<0.001	2	38646

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