A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1823461



Internal ID17793853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231293227..231310304hg38UCSC Ensembl
Innerchr1:231428973..231446050hg19UCSC Ensembl
Innerchr1:229495596..229512673hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3817078
hg1917078
hg1817078
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945369
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)nssv1823461
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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