A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192067



Internal ID22342698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247545974..247588756hg38UCSC Ensembl
Outerchr1:247709276..247752058hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3842783
hg1942783
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253994
SamplesNA19239
Known GenesGCSAML, OR2G2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192067
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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