A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1802256



Internal ID17748194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158194895..158196741hg38UCSC Ensembl
Innerchr1:158164685..158166531hg19UCSC Ensembl
Innerchr1:156431309..156433155hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381847
hg191847
hg181847
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946437
Supporting Variants
SamplesHGDP00521
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)nssv1802256
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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