A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946605



Internal ID18593455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:205200566..205204231hg38UCSC Ensembl
Innerchr1:205169694..205173359hg19UCSC Ensembl
Innerchr1:203436317..203439982hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg383666
hg193666
hg183666
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1813946, nssv1813951, nssv1813947, nssv1813953, nssv1813949, nssv1813952, nssv1813950, nssv1813948, nssv1813945, nssv1813944
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDSTYK
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946605
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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