Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4949292

Organism: Homo sapiens

Study:nstd200 (Abel 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:1,043

Publication(s):Abel et al. 2020

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: 167 SVs from 43 studies. See in: genome view

Submitted genomic179,629,074-179,630,185

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4949292	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	179,629,135 (-61, +49)	179,630,177 (-8, +8)
nsv4949292	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	179,056,136 (-61, +49)	179,057,178 (-8, +8)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16491954	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16491954	Submitted genomic		NC_000005.10:g.(17 9629074_179629184) _(179630169_179630 185)dup	GRCh38 (hg38)		NC_000005.10	Chr5	179,629,135 (-61, +49)	179,630,177 (-8, +8)
nssv16491954	Remapped	Perfect	NC_000005.9:g.(179 056075_179056185)_ (179057170_1790571 86)dup	GRCh37.p13	First Pass	NC_000005.9	Chr5	179,056,136 (-61, +49)	179,057,178 (-8, +8)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv16491954	0.088	2559	29246

You are here: NCBI