A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967564



Internal ID18256106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12004298..12139302hg38UCSC Ensembl
Innerchr8:11861807..11996811hg19UCSC Ensembl
Innerchr8:11899216..12034220hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38135005
hg19135005
hg18135005
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2495882, nssv2495873, nssv2495876, nssv2495879, nssv2495874, nssv2495877, nssv2495881, nssv2495875, nssv2495880, nssv2495878
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesDEFB130, FAM66D, LOC100133267, LOC392196, USP17L2, USP17L7, ZNF705D
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967564
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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