A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981484



Internal ID18269995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:57155442..57178541hg38UCSC Ensembl
Innerchr7:57223149..57246248hg19UCSC Ensembl
Innerchr7:57227091..57250190hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3823100
hg1923100
hg1823100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2450411, nssv2451206, nssv2450406, nssv2450410, nssv2451204, nssv2451205, nssv2450407, nssv2450408, nssv2450409, nssv2451207
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGUSBP10
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981484
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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