A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3953152



Internal ID21373222
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 Variantsnssv15201573
SamplesHG002
Known GenesSPOCK1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3953152
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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