A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970976



Internal ID18259512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152430439..152442324hg38UCSC Ensembl
Innerchr7:152127524..152139409hg19UCSC Ensembl
Innerchr7:151758457..151770342hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3811886
hg1911886
hg1811886
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2486888, nssv2486896, nssv2486889, nssv2486894, nssv2486892, nssv2486895, nssv2486891, nssv2486893, nssv2486897, nssv2486890
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesFABP5P3, KMT2C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970976
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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