A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5627983



Internal ID21576288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137059138..137059138hg38UCSC Ensembl
chr5:136394827..136394827hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17125282
SamplesHG00512
Known GenesSPOCK1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5627983
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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