A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1774342



Internal ID17763157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89055777..89057181hg38UCSC Ensembl
Innerchr1:89521460..89522864hg19UCSC Ensembl
Innerchr1:89294048..89295452hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg381405
hg191405
hg181405
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946056
Supporting Variants
SamplesHGDP00542
Known GenesGBP1
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)nssv1774342
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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