A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966870



Internal ID18602099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102691822..102754800hg38UCSC Ensembl
Innerchr7:102332269..102395247hg19UCSC Ensembl
Innerchr7:102119505..102182483hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3862979
hg1962979
hg1862979
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2472519, nssv2472522, nssv2472520, nssv2473316, nssv2472521, nssv2472516, nssv2472515, nssv2472523, nssv2472518, nssv2472517
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM185A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966870
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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