A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014949



Internal ID18757484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53669630..53720644hg38UCSC Ensembl
Innerchr2:53896767..53947781hg19UCSC Ensembl
Innerchr2:53750271..53801285hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3851015
hg1951015
hg1851015
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3844n100
Supporting Variantsnssv3576627, nssv3730767
Samples
Known GenesASB3, GPR75-ASB3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014949
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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