A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004912



Internal ID18747443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32703487..32727701hg38UCSC Ensembl
Innerchr2:32928554..32952768hg19UCSC Ensembl
Innerchr2:32782058..32806272hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3824215
hg1924215
hg1824215
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3728003
Samples
Known GenesTTC27
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004912
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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