A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2462282



Internal ID17806687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:68107380..68108111hg38UCSC Ensembl
Innerchr7:67572367..67573098hg19UCSC Ensembl
Innerchr7:67209802..67210533hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38732
hg19732
hg18732
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966842
Supporting Variants
SamplesHGDP00778
Known Genes
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)nssv2462282
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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