A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010519



Internal ID19099736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:62131272..62177288hg38UCSC Ensembl
Innerchr2:62358407..62404423hg19UCSC Ensembl
Innerchr2:62211911..62257927hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3846017
hg1946017
hg1846017
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3577252
Samples
Known GenesCOMMD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010519
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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