A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001447



Internal ID19090664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45067758..45107394hg38UCSC Ensembl
Innerchr2:45294897..45334533hg19UCSC Ensembl
Innerchr2:45148401..45188037hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3839637
hg1939637
hg1839637
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581601
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)nsv1001447
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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