A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2465356



Internal ID17878177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75298439..75380459hg38UCSC Ensembl
Innerchr7:74909647..75009736hg19UCSC Ensembl
Innerchr7:74747583..74847672hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3882021
hg19100090
hg18100090
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981534
Supporting Variants
SamplesHGDP01307
Known GenesPMS2P5, SPDYE8P, STAG3L1
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)nssv2465356
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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