A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2512645



Internal ID17774125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:86503781..86506900hg38UCSC Ensembl
Innerchr8:87516010..87519129hg19UCSC Ensembl
Innerchr8:87585126..87588245hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg383120
hg193120
hg183120
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971681
Supporting Variants
SamplesHGDP00542
Known GenesRMDN1
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)nssv2512645
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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