A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150520



Internal ID15531199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:8724825..8829358hg38UCSC Ensembl
Innerchr16:8818682..8923215hg19UCSC Ensembl
Innerchr16:8726183..8830716hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38104534
hg19104534
hg18104534
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv571425
Supporting Variants
SamplesHGDP01063
Known GenesABAT, PMM2, TMEM186
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150520
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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