A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2463149



Internal ID17742633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74916326..74950172hg38UCSC Ensembl
Innerchr7:74332414..74365051hg19UCSC Ensembl
Innerchr7:73970350..74002987hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3833847
hg1932638
hg1832638
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv970533
Supporting Variants
SamplesHGDP00456
Known GenesPMS2P5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2463149
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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