A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963006



Internal ID18251562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12146273..12150157hg38UCSC Ensembl
Innerchr19:12257088..12260972hg19UCSC Ensembl
Innerchr19:12118088..12121972hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg383885
hg193885
hg183885
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2132907, nssv2132910, nssv2132909, nssv2132912, nssv2132911, nssv2132908, nssv2132905, nssv2132906, nssv2132903, nssv2132904
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZNF625, ZNF625-ZNF20
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963006
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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