A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961223



Internal ID18249783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42632065..42633581hg38UCSC Ensembl
Innerchr19:43136217..43137733hg19UCSC Ensembl
Innerchr19:47828057..47829573hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381517
hg191517
hg181517
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2150882, nssv2150880, nssv2150879, nssv2150877, nssv2150878, nssv2150881, nssv2150883, nssv2150876, nssv2150884, nssv2150885
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLIPE-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961223
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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