A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1816498



Internal ID17793583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207148914..207153830hg38UCSC Ensembl
Innerchr1:207322259..207327175hg19UCSC Ensembl
Innerchr1:205388882..205393798hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg384917
hg194917
hg184917
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946620
Supporting Variants
SamplesHGDP00778
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)nssv1816498
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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