A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979168



Internal ID18267685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202801223..202813795hg38UCSC Ensembl
Innerchr2:203665946..203678518hg19UCSC Ensembl
Innerchr2:203374191..203386763hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3812573
hg1912573
hg1812573
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2217272, nssv2217281, nssv2217275, nssv2217274, nssv2217278, nssv2217279, nssv2217273, nssv2217277, nssv2217276, nssv2217280
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesICA1L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979168
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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