A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5629165



Internal ID21577470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137679085..137679085hg38UCSC Ensembl
chr5:137014774..137014774hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg386050
hg196050
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17127680
SamplesHG00732
Known GenesKLHL3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5629165
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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