A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2132327



Internal ID17406854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:11522181..11529192hg38UCSC Ensembl
Innerchr19:11632996..11640007hg19UCSC Ensembl
Innerchr19:11493996..11501007hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg387012
hg197012
hg187012
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960784
Supporting Variants
SamplesHGDP00521
Known GenesECSIT
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)nssv2132327
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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