A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16286728



Internal ID20495946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178656151..178660408hg38UCSC Ensembl
chr2:179520878..179525135hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg384258
hg194258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4745086
Supporting Variants
Samples
Known GenesMIR548N, TTN
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16286728
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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