A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981956



Internal ID18270466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:80644578..80645078hg38UCSC Ensembl
Innerchr8:81556813..81557313hg19UCSC Ensembl
Innerchr8:81719368..81719868hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2509141, nssv2509146, nssv2509145, nssv2509144, nssv2509142, nssv2509140, nssv2509139, nssv2509147, nssv2509138, nssv2509143
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZNF704
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981956
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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