A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1809920



Internal ID17867506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:182958486..182961132hg38UCSC Ensembl
Innerchr1:182927621..182930267hg19UCSC Ensembl
Innerchr1:181194244..181196890hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg382647
hg192647
hg182647
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946535
Supporting Variants
SamplesHGDP01284
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)nssv1809920
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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