A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969464



Internal ID18604691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:160548100..160556778hg38UCSC Ensembl
Innerchr6:160969132..160977810hg19UCSC Ensembl
Innerchr6:160889122..160897800hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg388679
hg198679
hg188679
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2430311, nssv2430307, nssv2430306, nssv2430312, nssv2430310, nssv2430313, nssv2430308, nssv2430309, nssv2430314, nssv2430305
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLPA
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969464
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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