A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970101



Internal ID18605325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29724491..29727838hg38UCSC Ensembl
Innerchr6:29692268..29695615hg19UCSC Ensembl
Innerchr6:29800247..29803594hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg383348
hg193348
hg183348
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2401144, nssv2401135, nssv2401142, nssv2401136, nssv2401139, nssv2401141, nssv2401137, nssv2401138, nssv2401143, nssv2401140
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHLA-F, HLA-F-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970101
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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