A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173856



Internal ID15531459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54593622..54757517hg38UCSC Ensembl
Innerchr1:55059295..55223190hg19UCSC Ensembl
Innerchr1:54831883..54995778hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38163896
hg19163896
hg18163896
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546269
Supporting Variants
SamplesHGDP01101
Known GenesACOT11, FAM151A, MROH7, MROH7-TTC4, PARS2, TTC4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173856
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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