A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981920



Internal ID18270430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:25427953..25430126hg38UCSC Ensembl
Innerchr8:25285469..25287642hg19UCSC Ensembl
Innerchr8:25341386..25343559hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg382174
hg192174
hg182174
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2498383, nssv2498391, nssv2498385, nssv2498387, nssv2498390, nssv2498388, nssv2498384, nssv2498386, nssv2498392, nssv2498389
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesKCTD9
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981920
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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