A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15760961



Internal ID22095414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30269982..30270208hg38UCSC Ensembl
chr13:30844119..30844345hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4446382
Supporting Variants
Samples
Known GenesKATNAL1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15760961
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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