A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971699



Internal ID18606916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:123812453..123816958hg38UCSC Ensembl
Innerchr8:124824693..124829198hg19UCSC Ensembl
Innerchr8:124893874..124898379hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg384506
hg194506
hg184506
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2518331, nssv2518328, nssv2518330, nssv2518324, nssv2518327, nssv2518325, nssv2518322, nssv2518329, nssv2518323, nssv2518326
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM91A1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971699
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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