A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971338



Internal ID18606558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:95403502..95404202hg38UCSC Ensembl
Innerchr8:96415730..96416430hg19UCSC Ensembl
Innerchr8:96484906..96485606hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38701
hg19701
hg18701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2513520, nssv2513522, nssv2513523, nssv2513517, nssv2513525, nssv2513521, nssv2513518, nssv2513524, nssv2513519, nssv2513516
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC100616530
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971338
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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