A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2509140



Internal ID17461888
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 StatusS
Merged Variantsnsv981956
Supporting Variants
SamplesHGDP00778
Known GenesZNF704
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2509140
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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