A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1793737



Internal ID17450745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148208733..148217468hg38UCSC Ensembl
Innerchr1:147681010..147689746hg19UCSC Ensembl
Innerchr1:146147634..146156370hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg388736
hg198737
hg188737
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946322
Supporting Variants
SamplesHGDP00778
Known GenesNBPF10, NBPF8
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)nssv1793737
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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