A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2438518



Internal ID17885235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:22765431..22774740hg38UCSC Ensembl
Innerchr7:22805050..22814359hg19UCSC Ensembl
Innerchr7:22771575..22780884hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg389310
hg199310
hg189310
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970450
Supporting Variants
SamplesHGDP01307
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)nssv2438518
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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