A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979135



Internal ID18267652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:151633514..151634014hg38UCSC Ensembl
Innerchr2:152490028..152490528hg19UCSC Ensembl
Innerchr2:152198274..152198774hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2207892, nssv2207886, nssv2207883, nssv2207890, nssv2207888, nssv2207889, nssv2207891, nssv2207885, nssv2207884, nssv2207887
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesNEB
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979135
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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