A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2466602



Internal ID17881149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76075024..76097939hg38UCSC Ensembl
Innerchr7:75704342..75727257hg19UCSC Ensembl
Innerchr7:75542278..75565193hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3822916
hg1922916
hg1822916
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970888
Supporting Variants
SamplesHGDP01307
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)nssv2466602
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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