A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2279507



Internal ID17854594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:44577610..44581731hg38UCSC Ensembl
Innerchr3:44619102..44623223hg19UCSC Ensembl
Innerchr3:44594106..44598227hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384122
hg194122
hg184122
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965162
Supporting Variants
SamplesHGDP01029
Known GenesZKSCAN7
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)nssv2279507
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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