A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17601361



Internal ID21793408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119130284..119130405hg38UCSC Ensembl
chr12:119568089..119568210hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6038505
Supporting Variants
Samples
Known GenesSRRM4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17601361
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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