A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255772



Internal ID22291569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206399867..206453521hg38UCSC Ensembl
Outerchr1:206573226..206626867hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3853655
hg1953642
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193153
Supporting Variants
SamplesNA19240
Known GenesSRGAP2, SRGAP2B, SRGAP2C, SRGAP2D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255772
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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