A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1763636



Internal ID17398936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47113079..47151823hg38UCSC Ensembl
Innerchr1:47578751..47617495hg19UCSC Ensembl
Innerchr1:47351338..47390082hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3838745
hg1938745
hg1838745
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945929
Supporting Variants
SamplesHGDP00521
Known GenesCYP4A22, CYP4Z1
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)nssv1763636
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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