A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960849



Internal ID18249410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43964474..43965906hg38UCSC Ensembl
Innerchr19:44468626..44470058hg19UCSC Ensembl
Innerchr19:49160466..49161898hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg381433
hg191433
hg181433
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2151403, nssv2151406, nssv2151402, nssv2151408, nssv2151404, nssv2151405, nssv2151407, nssv2151409, nssv2151411, nssv2151410
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesZNF221
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960849
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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