A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005876



Internal ID18748407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:198619566..198754820hg38UCSC Ensembl
Innerchr1:198588696..198723949hg19UCSC Ensembl
Innerchr1:196855319..196990572hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38135255
hg19135254
hg18135254
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3501837
Samples
Known GenesPTPRC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005876
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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