A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971322



Internal ID18606542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:73045325..73051186hg38UCSC Ensembl
Innerchr8:73957560..73963421hg19UCSC Ensembl
Innerchr8:74120114..74125975hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg385862
hg195862
hg185862
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2508689, nssv2508691, nssv2508693, nssv2508690, nssv2508695, nssv2508686, nssv2508692, nssv2508688, nssv2508694, nssv2508687
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTERF1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971322
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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