A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008648



Internal ID19097865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53456405..53481393hg38UCSC Ensembl
Innerchr2:53683543..53708531hg19UCSC Ensembl
Innerchr2:53537047..53562035hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3824989
hg1924989
hg1824989
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3730764
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008648
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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