A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6056317



Internal ID21965550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11524762..11524762hg38UCSC Ensembl
chr1:11584819..11584819hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17525717
Samples
Known GenesPTCHD2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6056317
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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