A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003267



Internal ID18745798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:198595315..198687113hg38UCSC Ensembl
Innerchr1:198564445..198656242hg19UCSC Ensembl
Innerchr1:196831068..196922865hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3891799
hg1991798
hg1891798
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3488236
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)nsv1003267
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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