A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16278231



Internal ID20487449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180873529..180873529hg38UCSC Ensembl
chr2:181738256..181738256hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4758481
Supporting Variants
Samples
Known GenesSCHLAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16278231
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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