A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2460883



Internal ID17745333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:67277796..67311131hg38UCSC Ensembl
Innerchr7:66742783..66776118hg19UCSC Ensembl
Innerchr7:66380218..66413553hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3833336
hg1933336
hg1833336
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970872
Supporting Variants
SamplesHGDP00521
Known GenesPMS2P4, STAG3L4
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)nssv2460883
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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