A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006178



Internal ID18748709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74925373..75012561hg38UCSC Ensembl
Innerchr2:75152500..75239688hg19UCSC Ensembl
Innerchr2:75006008..75093196hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3887189
hg1987189
hg1887189
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3872n100
Supporting Variantsnssv3581999, nssv3581998
Samples
Known GenesPOLE4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006178
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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