A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516846



Internal ID15444139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:88504581..88541216hg38UCSC Ensembl
Innerchr14:88970925..89007560hg19UCSC Ensembl
Innerchr14:88040678..88077313hg18UCSC Ensembl
Innerchr14:88040678..88077313hg17UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3836636
hg1936636
hg1836636
hg1736636
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv654400, nssv681330
Samples
Known GenesPTPN21
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516846
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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