A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004646



Internal ID18747177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131271332..131475879hg38UCSC Ensembl
Innerchr2:132028905..132233452hg19UCSC Ensembl
Innerchr2:131745375..131949922hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38204548
hg19204548
hg18204548
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580859
Samples
Known GenesLINC01120, LOC401010, LOC440910, RNU6-81P, WTH3DI
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004646
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