A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3581631



Internal ID18533226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46497384..46686013hg38UCSC Ensembl
Innerchr2:46724523..46913152hg19UCSC Ensembl
Innerchr2:46578027..46766656hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38188630
hg19188630
hg18188630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009735
Supporting Variants
Samples
Known GenesATP6V1E2, CRIPT, LOC100506142, PIGF, RHOQ
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3581631
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer