A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981523



Internal ID18270034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72857783..72953249hg38UCSC Ensembl
Innerchr7:72328343..72423788hg19UCSC Ensembl
Innerchr7:71966279..72061724hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3895467
hg1995446
hg1895446
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2461910, nssv2461914, nssv2461909, nssv2461912, nssv2461917, nssv2461913, nssv2461911, nssv2461915, nssv2461916, nssv2461918
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesNSUN5P2, POM121, SPDYE7P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981523
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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