A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1750595



Internal ID17529832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:10001..19818hg38UCSC Ensembl
Innerchr1:10001..19818hg19UCSC Ensembl
Innerchr1:1..9681hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg389818
hg199818
hg189681
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv945697
Supporting Variants
SamplesHGDP01307
Known GenesDDX11L1, LOC100288778, MIR6859-1, MIR6859-2, WASH7P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1750595
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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