A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583046



Internal ID16370455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128746961..130390535hg38UCSC Ensembl
Innerchr2:129504535..131148108hg19UCSC Ensembl
Innerchr2:129221005..130864578hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg381643575
hg191643574
hg181643574
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150502
SamplesHGDP00780
Known GenesCCDC115, CCDC74B, FAR2P1, IMP4, LOC389033, MED15P9, MZT2B, POTEF, PTPN18, RAB6C, RAB6C-AS1, SMPD4, TUBA3E
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583046
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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