A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964907



Internal ID18253457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:94825932..94830308hg38UCSC Ensembl
Innerchr5:94161637..94166013hg19UCSC Ensembl
Innerchr5:94187393..94191769hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg384377
hg194377
hg184377
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2368852, nssv2368848, nssv2368844, nssv2368850, nssv2368845, nssv2368851, nssv2368846, nssv2368853, nssv2368847, nssv2368849
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesMCTP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964907
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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