A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2720619



Internal ID17820279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75336337..75344040hg38UCSC Ensembl
Innerchr7:74965555..74973262hg19UCSC Ensembl
Innerchr7:74803491..74811198hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg387704
hg197708
hg187708
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971040
Supporting Variants
SamplesHGDP00927
Known GenesPMS2P5, SPDYE8P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2720619
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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