A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1819018



Internal ID17793671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:220448120..220449359hg38UCSC Ensembl
Innerchr1:220621462..220622701hg19UCSC Ensembl
Innerchr1:218688085..218689324hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381240
hg191240
hg181240
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945300
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)nssv1819018
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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