A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2279405



Internal ID17804623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:44573956..44577610hg38UCSC Ensembl
Innerchr3:44615448..44619102hg19UCSC Ensembl
Innerchr3:44590452..44594106hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383655
hg193655
hg183655
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967009
Supporting Variants
SamplesHGDP00778
Known GenesZKSCAN7
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)nssv2279405
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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