A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6064563



Internal ID21973796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56814972..56814972hg38UCSC Ensembl
chr4:57681138..57681138hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg382405
hg192405
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17557219
Samples
Known GenesSPINK2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6064563
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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