A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1760925



Internal ID17844566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45016435..45020013hg38UCSC Ensembl
Innerchr1:45482107..45485685hg19UCSC Ensembl
Innerchr1:45254694..45258272hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg383579
hg193579
hg183579
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945916
Supporting Variants
SamplesHGDP01029
Known GenesZSWIM5
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)nssv1760925
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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