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dbVar

Database of genomic structural variation

nsv6455467

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:343

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: 235 SVs from 55 studies. See in: genome view

Submitted genomic133,514,088-133,514,430

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6455467	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000009.12	Chr9	133,514,088	133,514,430
nsv6455467	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	136,379,210	136,379,552

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18177114	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18177114	Submitted genomic		NC_000009.12:g.133 514088_133514430de l	GRCh38 (hg38)		NC_000009.12	Chr9	133,514,088	133,514,430
nssv18177114	Remapped	Perfect	NC_000009.11:g.136 379210_136379552de l	GRCh37.p13	First Pass	NC_000009.11	Chr9	136,379,210	136,379,552

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)
nssv18177114	0.939	35031	37310

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