A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516687



Internal ID15097294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:214385315..214386708hg38UCSC Ensembl
Innerchr1:214558658..214560051hg19UCSC Ensembl
Innerchr1:212625281..212626674hg18UCSC Ensembl
Innerchr1:210947053..210948446hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381394
hg191394
hg181394
hg171394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv687846, nssv670154, nssv687122, nssv678447, nssv658990, nssv681847, nssv693734, nssv658406, nssv691566
Samples
Known GenesPTPN14
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516687
Frequency
Sample Size2026
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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