A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256944



Internal ID22144869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:192508690..192645933hg38UCSC Ensembl
Outerchr1:192477820..192615063hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38137244
hg19137244
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208795
Supporting Variants
SamplesHG00514
Known GenesRGS1, RGS13
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256944
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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