A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1816596



Internal ID17479905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207506083..207507083hg38UCSC Ensembl
Innerchr1:207679428..207680428hg19UCSC Ensembl
Innerchr1:205746051..205747051hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946621
Supporting Variants
SamplesHGDP00998
Known GenesCR1
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)nssv1816596
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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