A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002047



Internal ID18744578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:63357662..63421647hg38UCSC Ensembl
Innerchr2:63584797..63648782hg19UCSC Ensembl
Innerchr2:63438301..63502286hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3863986
hg1963986
hg1863986
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3577258, nssv3577259, nssv3577261, nssv3577262, nssv3577263, nssv3577260
Samples
Known GenesWDPCP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002047
Frequency
Sample Size29084
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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