A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257195



Internal ID22267529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:53119975..53141810hg38UCSC Ensembl
Outerchr1:53585647..53607482hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3821836
hg1921836
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191662
Supporting Variants
SamplesNA19238
Known GenesSLC1A7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257195
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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