A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2154134



Internal ID17837815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:50606378..50623109hg38UCSC Ensembl
Innerchr19:51109635..51126366hg19UCSC Ensembl
Innerchr19:55801447..55818178hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3816732
hg1916732
hg1816732
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv961234
Supporting Variants
SamplesHGDP00998
Known GenesSYT3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2154134
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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