A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2757036



Internal ID17510593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:40724480..40774465hg38UCSC Ensembl
Innerchr13:41298616..41348601hg19UCSC Ensembl
Innerchr13:40196616..40246601hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3849986
hg1949986
hg1849986
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974239
Supporting Variants
SamplesHGDP01029
Known GenesMIR320D1, MRPS31
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2757036
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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