A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008463



Internal ID18750994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:212491611..212523971hg38UCSC Ensembl
Innerchr2:213356335..213388695hg19UCSC Ensembl
Innerchr2:213064580..213096940hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3832361
hg1932361
hg1832361
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3585671
Samples
Known GenesERBB4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008463
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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