A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1769521



Internal ID17737452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:56585004..56586120hg38UCSC Ensembl
Innerchr1:57050677..57051793hg19UCSC Ensembl
Innerchr1:56823265..56824381hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg381117
hg191117
hg181117
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945966
Supporting Variants
SamplesHGDP00456
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)nssv1769521
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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