A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1802748



Internal ID17814312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161359490..161363014hg38UCSC Ensembl
Innerchr1:161329280..161332804hg19UCSC Ensembl
Innerchr1:159595904..159599428hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg383525
hg193525
hg183525
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946460
Supporting Variants
SamplesHGDP00927
Known GenesSDHC
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)nssv1802748
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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