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

dbVar

Database of genomic structural variation

nsv4852119

Organism: Homo sapiens

Study:nstd200 (Abel et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:2,183

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: 274 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):12,344,533-12,346,720

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4852119	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	12,344,535 (-2, +72)	12,346,717 (-42, +3)
nsv4852119	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	12,344,534 (-2, +72)	12,346,716 (-42, +3)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16371588	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16371588	Remapped	Perfect	NC_000018.10:g.(12 344533_12344607)_( 12346675_12346720) del	GRCh38.p12	First Pass	NC_000018.10	Chr18	12,344,535 (-2, +72)	12,346,717 (-42, +3)
nssv16371588	Submitted genomic		NC_000018.9:g.(123 44532_12344606)_(1 2346674_12346719)d el	GRCh37 (hg19)		NC_000018.9	Chr18	12,344,534 (-2, +72)	12,346,716 (-42, +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)
nssv16371588	<0.001	1	16834

You are here: NCBI