A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258383



Internal ID22192345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:210157523..210175905hg38UCSC Ensembl
Outerchr1:210330868..210349250hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3818383
hg1918383
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199371
Supporting Variants
SamplesHG00731
Known GenesSYT14
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258383
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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