A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6006313



Internal ID21915656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137158900..137162965hg38UCSC Ensembl
chr5:136494589..136498654hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg384066
hg194066
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17540197
Samples
Known GenesSPOCK1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6006313
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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