A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173774



Internal ID15526438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:15689491..15753676hg38UCSC Ensembl
Innerchr1:16015986..16080171hg19UCSC Ensembl
Innerchr1:15888573..15952758hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3864186
hg1964186
hg1864186
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545615
Supporting Variants
SamplesHGDP00130
Known GenesPLEKHM2, SLC25A34, TMEM82
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173774
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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