A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254675



Internal ID22117330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:44170996..44216902hg38UCSC Ensembl
Outerchr1:44636668..44682574hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3845907
hg1945907
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193858
Supporting Variants
SamplesHG00512
Known GenesDMAP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254675
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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