A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv654400



Internal ID15391052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:88505959..88541216hg38UCSC Ensembl
Innerchr14:88972303..89007560hg19UCSC Ensembl
Innerchr14:88042056..88077313hg18UCSC Ensembl
Innerchr14:88042056..88077313hg17UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3835258
hg1935258
hg1835258
hg1735258
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516846
Supporting Variants
Samples
Known GenesPTPN21
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv654400
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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