A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1803308



Internal ID17764753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:159668243..159668842hg38UCSC Ensembl
Innerchr1:159638033..159638632hg19UCSC Ensembl
Innerchr1:157904657..157905256hg18UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg38600
hg19600
hg18600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946450
Supporting Variants
SamplesHGDP00542
Known Genes
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)nssv1803308
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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