A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2438752



Internal ID17885759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:23480761..23482480hg38UCSC Ensembl
Innerchr7:23520380..23522099hg19UCSC Ensembl
Innerchr7:23486905..23488624hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg381720
hg191720
hg181720
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966763
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)nssv2438752
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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