A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5538649



Internal ID313709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31345582..31345598hg38UCSC Ensembl
chr1:31818429..31818445hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901349
Samples
Known GenesZCCHC17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5538649
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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