A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547535



Internal ID15988258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:111195294..111519590hg38UCSC Ensembl
Innerchr1:111737916..112062212hg19UCSC Ensembl
Innerchr1:111539439..111863735hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38324297
hg19324297
hg18324297
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173116
SamplesHGDP01268
Known GenesADORA3, ATP5F1, C1orf162, CHI3L2, CHIA, CHIAP2, DENND2D, OVGP1, PGCP1, PIFO, WDR77
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547535
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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