A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2458541



Internal ID17740756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:65936971..65943487hg38UCSC Ensembl
Innerchr7:65401958..65408474hg19UCSC Ensembl
Innerchr7:65039393..65045909hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg386517
hg196517
hg186517
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966829
Supporting Variants
SamplesHGDP00456
Known GenesVKORC1L1
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)nssv2458541
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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