A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961841



Internal ID18597087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97821013..97829866hg38UCSC Ensembl
Innerchr2:98437476..98446329hg19UCSC Ensembl
Innerchr2:97803908..97812761hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg388854
hg198854
hg188854
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2191940, nssv2191935, nssv2191943, nssv2191937, nssv2191938, nssv2191941, nssv2191942, nssv2191936, nssv2191939, nssv2191944
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTMEM131
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961841
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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