A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978017



Internal ID18613222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:90219000..90226247hg38UCSC Ensembl
Innerchr16:90285408..90292655hg19UCSC Ensembl
Innerchr16:88812909..88820156hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg387248
hg197248
hg187248
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2071567, nssv2071566, nssv2071571, nssv2071565, nssv2071569, nssv2071568, nssv2071572, nssv2071573, nssv2071564, nssv2071570
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)nsv978017
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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