A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207541



Internal ID22355913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:44518656..44561291hg38UCSC Ensembl
Outerchr1:44984328..45026963hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3842636
hg1942636
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253564, nssv14253563, nssv14253562
SamplesHG00512, NA19239, HG00514
Known GenesMIR5584, RNF220
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207541
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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