A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2418646



Internal ID17777045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:100540923..100546926hg38UCSC Ensembl
Innerchr6:100988799..100994802hg19UCSC Ensembl
Innerchr6:101095520..101101523hg18UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg386004
hg196004
hg186004
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981170
Supporting Variants
SamplesHGDP00665
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)nssv2418646
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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