A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2208541



Internal ID17540480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:148881290..148881925hg38UCSC Ensembl
Innerchr2:149638859..149639494hg19UCSC Ensembl
Innerchr2:149355329..149355964hg18UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38636
hg19636
hg18636
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979133
Supporting Variants
SamplesHGDP01307
Known GenesKIF5C
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)nssv2208541
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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