A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901584



Internal ID1859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43659835..43665835hg38UCSC Ensembl
chr1:44125506..44131506hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138459
Supporting Variants
Samples
Known GenesKDM4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901584
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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