A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2142897



Internal ID17453275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:29950051..29964355hg38UCSC Ensembl
Innerchr19:30440958..30455262hg19UCSC Ensembl
Innerchr19:35132798..35147102hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3814305
hg1914305
hg1814305
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960823
Supporting Variants
SamplesHGDP00778
Known GenesURI1
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)nssv2142897
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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