A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1771949



Internal ID17762929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:77686514..77694692hg38UCSC Ensembl
Innerchr1:78152199..78160377hg19UCSC Ensembl
Innerchr1:77924787..77932965hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg388179
hg198179
hg188179
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946004
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)nssv1771949
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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