A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2439738



Internal ID17876691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:29210174..29213513hg38UCSC Ensembl
Innerchr7:29249790..29253129hg19UCSC Ensembl
Innerchr7:29216315..29219654hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg383340
hg193340
hg183340
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970811
Supporting Variants
SamplesHGDP01307
Known GenesCHN2
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)nssv2439738
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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