A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1778593



Internal ID17763559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:96445688..96453455hg38UCSC Ensembl
Innerchr1:96911244..96919011hg19UCSC Ensembl
Innerchr1:96683832..96691599hg18UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg387768
hg197768
hg187768
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946088
Supporting Variants
SamplesHGDP00542
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)nssv1778593
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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