A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960785



Internal ID18249346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:11604604..11614682hg38UCSC Ensembl
Innerchr19:11715419..11725497hg19UCSC Ensembl
Innerchr19:11576419..11586497hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3810079
hg1910079
hg1810079
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2132423, nssv2132428, nssv2132431, nssv2132425, nssv2132427, nssv2132432, nssv2132430, nssv2132426, nssv2132424, nssv2132429
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZNF627
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960785
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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