A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17124625



Internal ID21418471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53102580..53102633hg38UCSC Ensembl
chr5:52398410..52398463hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5570554
Supporting Variants
SamplesHG00731
Known GenesMOCS2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17124625
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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