A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008613



Internal ID19097830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:207476490..207493551hg38UCSC Ensembl
Innerchr2:208341214..208358275hg19UCSC Ensembl
Innerchr2:208049459..208066520hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3817062
hg1917062
hg1817062
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4157n100
Supporting Variantsnssv3585590
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)nsv1008613
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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