A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967339



Internal ID18602567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75344040..75353415hg38UCSC Ensembl
Innerchr7:74973262..74982662hg19UCSC Ensembl
Innerchr7:74811198..74820598hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg389376
hg199401
hg189401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2720672, nssv2721204, nssv2720668, nssv2720673, nssv2720674, nssv2720675, nssv2720671, nssv2721205, nssv2720669, nssv2720670
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPMS2P5, SPDYE8P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967339
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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