A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2438151



Internal ID17784793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:21219860..21221569hg38UCSC Ensembl
Innerchr7:21259479..21261188hg19UCSC Ensembl
Innerchr7:21226004..21227713hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg381710
hg191710
hg181710
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966761
Supporting Variants
SamplesHGDP00665
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)nssv2438151
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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