A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2132431



Internal ID17440030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:11604604..11614682hg38UCSC Ensembl
Innerchr19:11715419..11725497hg19UCSC Ensembl
Innerchr19:11576419..11586497hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3810079
hg1910079
hg1810079
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960785
Supporting Variants
SamplesHGDP00665
Known GenesZNF627
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)nssv2132431
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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