A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1958640



Internal ID17500746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:30460398..30464014hg38UCSC Ensembl
Innerchr13:31034535..31038151hg19UCSC Ensembl
Innerchr13:29932535..29936151hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg383617
hg193617
hg183617
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976101
Supporting Variants
SamplesHGDP01029
Known GenesHMGB1
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)nssv1958640
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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