A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971687



Internal ID18260218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:97786960..97791299hg38UCSC Ensembl
Innerchr8:98799188..98803527hg19UCSC Ensembl
Innerchr8:98868364..98872703hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg384340
hg194340
hg184340
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2513632, nssv2513636, nssv2513631, nssv2513635, nssv2513640, nssv2513634, nssv2513638, nssv2513637, nssv2513633, nssv2513639
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLAPTM4B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971687
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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