A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2438245



Internal ID17742673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:21245197..21247432hg38UCSC Ensembl
Innerchr7:21284816..21287051hg19UCSC Ensembl
Innerchr7:21251341..21253576hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg382236
hg192236
hg182236
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981437
Supporting Variants
SamplesHGDP00456
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)nssv2438245
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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