A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15761818



Internal ID22096317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157862573..157862884hg38UCSC Ensembl
chr2:158719085..158719396hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4444217
Supporting Variants
Samples
Known GenesACVR1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15761818
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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