A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2441382



Internal ID17773638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:34935250..34972877hg38UCSC Ensembl
Innerchr7:34974862..35012489hg19UCSC Ensembl
Innerchr7:34941387..34979014hg18UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg3837628
hg1937628
hg1837628
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966775
Supporting Variants
SamplesHGDP00542
Known GenesDPY19L1
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)nssv2441382
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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