A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264823



Internal ID22257779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:156556053..156559778hg38UCSC Ensembl
Outerchr1:156525845..156529570hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38958
hg19958
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211264
Supporting Variants
SamplesNA19238
Known GenesIQGAP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264823
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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