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dbVar

Database of genomic structural variation

nsv6187048

Organism: Homo sapiens

Study:nstd214 (Naslavsky et al. 2022)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:133

Publication(s):Naslavsky et al. 2022

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: 82 SVs from 25 studies. See in: genome view

Submitted genomic122,185,417-122,185,549

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6187048	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000009.12	Chr9	122,185,417	122,185,549
nsv6187048	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	124,947,696	124,947,828

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17915213	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17915213	Submitted genomic		NC_000009.12:g.122 185417_122185549de l	GRCh38 (hg38)		NC_000009.12	Chr9	122,185,417	122,185,549
nssv17915213	Remapped	Perfect	NC_000009.11:g.124 947696_124947828de l	GRCh37.p13	First Pass	NC_000009.11	Chr9	124,947,696	124,947,828

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)
nssv17915213	0.026	58	2268

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