A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4767647



Internal ID20543507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137059136..137059136hg38UCSC Ensembl
chr5:136394825..136394825hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16277900
Samples
Known GenesSPOCK1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4767647
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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