A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2720486



Internal ID17875357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75315716..75316426hg38UCSC Ensembl
Innerchr7:74944886..74945596hg19UCSC Ensembl
Innerchr7:74782822..74783532hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38711
hg19711
hg18711
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967338
Supporting Variants
SamplesHGDP01284
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)nssv2720486
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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