A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2474216



Internal ID17805971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:108503063..108511716hg38UCSC Ensembl
Innerchr7:108143507..108152160hg19UCSC Ensembl
Innerchr7:107930743..107939396hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg388654
hg198654
hg188654
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981569
Supporting Variants
SamplesHGDP00778
Known GenesPNPLA8
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)nssv2474216
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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