A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000782



Internal ID19089999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:76593552..76647867hg38UCSC Ensembl
Innerchr2:76820678..76874993hg19UCSC Ensembl
Innerchr2:76674186..76728501hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3854316
hg1954316
hg1854316
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582015
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)nsv1000782
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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