A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961180



Internal ID18596426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12319713..12322705hg38UCSC Ensembl
Innerchr19:12430527..12433519hg19UCSC Ensembl
Innerchr19:12291527..12294519hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382993
hg192993
hg182993
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2133321, nssv2133318, nssv2133316, nssv2132520, nssv2133319, nssv2132522, nssv2132521, nssv2133320, nssv2132523, nssv2133317
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZNF563
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961180
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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