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dbVar

Database of genomic structural variation

nsv6483876

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:1,200

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: 126 SVs from 37 studies. See in: genome view

Submitted genomic120,714,401-120,715,600

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6483876	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	120,714,401	120,715,600
nsv6483876	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	121,152,204	121,153,403

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17997694	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17997694	Submitted genomic		NC_000012.12:g.120 714401_120715600de l	GRCh38 (hg38)		NC_000012.12	Chr12	120,714,401	120,715,600
nssv17997694	Remapped	Perfect	NC_000012.11:g.121 152204_121153403de l	GRCh37.p13	First Pass	NC_000012.11	Chr12	121,152,204	121,153,403

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)
nssv17997694	0.001	46	38086

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