A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17131642



Internal ID21416043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179264873..179264873hg38UCSC Ensembl
chr5:178691874..178691874hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5637903
Supporting Variants
SamplesHG00731
Known GenesADAMTS2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17131642
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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