A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14457830



Internal ID22251805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206372899..206372960hg38UCSC Ensembl
chr1:206546253..206546312hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3862
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3280525
Supporting Variants
SamplesHG00733
Known GenesSRGAP2, SRGAP2B, SRGAP2C
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14457830
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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