A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001330



Internal ID19090547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:192243436..192298843hg38UCSC Ensembl
Innerchr2:193108162..193163569hg19UCSC Ensembl
Innerchr2:192816407..192871814hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3855408
hg1955408
hg1855408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729308
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)nsv1001330
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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