A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960095



Internal ID18248662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:35004929..35006042hg38UCSC Ensembl
Innerchr17:33331948..33333061hg19UCSC Ensembl
Innerchr17:30356061..30357174hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381114
hg191114
hg181114
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2092221, nssv2092223, nssv2090392, nssv2090391, nssv2092224, nssv2092222, nssv2092220, nssv2092226, nssv2090390, nssv2092225
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLIG3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960095
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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