A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2479250



Internal ID17815269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:137512701..137516194hg38UCSC Ensembl
Innerchr7:137197447..137200940hg19UCSC Ensembl
Innerchr7:136847987..136851480hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg383494
hg193494
hg183494
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981587
Supporting Variants
SamplesHGDP00927
Known GenesDGKI
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)nssv2479250
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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