A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1827675



Internal ID17876700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247228062..247236963hg38UCSC Ensembl
Innerchr1:247391364..247400265hg19UCSC Ensembl
Innerchr1:245457987..245466888hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg388902
hg198902
hg188902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945440
Supporting Variants
SamplesHGDP01307
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)nssv1827675
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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