A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1764666



Internal ID17522894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25293460..25294559hg38UCSC Ensembl
Innerchr1:25619951..25621050hg19UCSC Ensembl
Innerchr1:25492538..25493637hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg381100
hg191100
hg181100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945832
Supporting Variants
SamplesHGDP01284
Known GenesRHD
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)nssv1764666
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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