A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5636122



Internal ID21584427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140215542..140215542hg38UCSC Ensembl
chr5:139595127..139595127hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17123983
SamplesHG00731
Known GenesCYSTM1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5636122
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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