A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2417100



Internal ID17809803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:87298967..87300566hg38UCSC Ensembl
Innerchr6:88008685..88010284hg19UCSC Ensembl
Innerchr6:88065404..88067003hg18UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg381600
hg191600
hg181600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981164
Supporting Variants
SamplesHGDP00927
Known GenesGJB7
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)nssv2417100
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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