A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963082



Internal ID18251638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54973856..54974712hg38UCSC Ensembl
Innerchr19:55485224..55486080hg19UCSC Ensembl
Innerchr19:60177036..60177892hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38857
hg19857
hg18857
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2158899, nssv2158895, nssv2158903, nssv2158896, nssv2158898, nssv2158897, nssv2158900, nssv2158894, nssv2158902, nssv2158901
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNLRP2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963082
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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