A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1760237



Internal ID17530828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:37957293..37958291hg38UCSC Ensembl
Innerchr1:38422965..38423963hg19UCSC Ensembl
Innerchr1:38195552..38196550hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945885
Supporting Variants
SamplesHGDP01307
Known GenesSF3A3
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)nssv1760237
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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