A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2416963



Internal ID17776590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:100531261..100533652hg38UCSC Ensembl
Innerchr6:100979137..100981528hg19UCSC Ensembl
Innerchr6:101085858..101088249hg18UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg382392
hg192392
hg182392
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969431
Supporting Variants
SamplesHGDP00542
Known GenesASCC3
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)nssv2416963
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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