A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961194



Internal ID18596440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:21815622..21837110hg38UCSC Ensembl
Innerchr19:21998424..22019912hg19UCSC Ensembl
Innerchr19:21790264..21811752hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg3821489
hg1921489
hg1821489
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2138711, nssv2138712, nssv2138707, nssv2138706, nssv2138710, nssv2138714, nssv2138705, nssv2138709, nssv2138708, nssv2138713
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZNF43
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961194
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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