A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961240



Internal ID18249800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:52739712..52892707hg38UCSC Ensembl
Innerchr19:53242965..53395960hg19UCSC Ensembl
Innerchr19:57934777..58087772hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38152996
hg19152996
hg18152996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2156390, nssv2156383, nssv2156382, nssv2156384, nssv2156386, nssv2156391, nssv2156387, nssv2156389, nssv2156388, nssv2156385
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesZNF28, ZNF320, ZNF468, ZNF600
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961240
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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