A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981971



Internal ID18617167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:101871400..101872603hg38UCSC Ensembl
Innerchr8:102883628..102884831hg19UCSC Ensembl
Innerchr8:102952804..102954007hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg381204
hg191204
hg181204
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2515208, nssv2515210, nssv2515214, nssv2515209, nssv2515215, nssv2515213, nssv2515212, nssv2515211, nssv2515207, nssv2515216
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNCALD
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981971
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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