A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007519



Internal ID19096738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:82245787..82378964hg38UCSC Ensembl
Innerchr2:82472911..82606088hg19UCSC Ensembl
Innerchr2:82326422..82459599hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38133178
hg19133178
hg18133178
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582159
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)nsv1007519
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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