A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17124607



Internal ID21418475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179135080..179135080hg38UCSC Ensembl
chr5:178562081..178562081hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5635326
Supporting Variants
SamplesHG00731
Known GenesADAMTS2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17124607
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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