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

dbVar

Database of genomic structural variation

nsv4904715

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:38,569

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: 270 SVs from 45 studies. See in: genome view

Submitted genomic3,499,847-3,538,421

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4904715	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	3,499,850 (-3, +3)	3,538,418 (-1, +3)
nsv4904715	Remapped	Pass	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	3,503,621 (-3, +3)	3,586,008 (-1, +3)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16435378	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16435378	Submitted genomic		NC_000002.12:g.(34 99847_3499853)_(35 38417_3538421)dup	GRCh38 (hg38)		NC_000002.12	Chr2	3,499,850 (-3, +3)	3,538,418 (-1, +3)
nssv16435378	Remapped	Pass	NC_000002.11:g.(35 03618_3503624)_(35 86007_3586011)dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	3,503,621 (-3, +3)	3,586,008 (-1, +3)

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)
nssv16435378	<0.001	1	29246

You are here: NCBI