A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17110733



Internal ID21424763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180701175..180701226hg38UCSC Ensembl
chr2:181565902..181565953hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5573532
Supporting Variants
SamplesHG00731
Known GenesSCHLAP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17110733
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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