A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2370366



Internal ID17812697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99495604..99521566hg38UCSC Ensembl
Innerchr5:98831308..98857270hg19UCSC Ensembl
Innerchr5:98859207..98885169hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3825963
hg1925963
hg1825963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv964911
Supporting Variants
SamplesHGDP00927
Known Genes
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)nssv2370366
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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