A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2135873



Internal ID17863912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:15517214..15520456hg38UCSC Ensembl
Innerchr19:15628025..15631267hg19UCSC Ensembl
Innerchr19:15489025..15492267hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg383243
hg193243
hg183243
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963013
Supporting Variants
SamplesHGDP01284
Known GenesCYP4F22
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2135873
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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