A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1770828



Internal ID17878702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:58630023..58631496hg38UCSC Ensembl
Innerchr1:59095695..59097168hg19UCSC Ensembl
Innerchr1:58868283..58869756hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg381474
hg191474
hg181474
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945971
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)nssv1770828
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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