A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978632



Internal ID18267149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:55635842..55636805hg38UCSC Ensembl
Innerchr18:53303073..53304036hg19UCSC Ensembl
Innerchr18:51454071..51455034hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38964
hg19964
hg18964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2123734, nssv2123727, nssv2123729, nssv2123731, nssv2123730, nssv2123732, nssv2123726, nssv2123728, nssv2123735, nssv2123733
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTCF4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978632
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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