A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961053



Internal ID18596300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:54406655..54407458hg38UCSC Ensembl
Innerchr18:51933025..51933828hg19UCSC Ensembl
Innerchr18:50187023..50187826hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38804
hg19804
hg18804
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2123005, nssv2123006, nssv2123011, nssv2123010, nssv2123007, nssv2123004, nssv2123013, nssv2123009, nssv2123008, nssv2123012
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961053
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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