A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17144593



Internal ID21465690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75358141..75358141hg38UCSC Ensembl
chr5:74653966..74653966hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5643490
Supporting Variants
SamplesHG03065
Known GenesHMGCR
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17144593
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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