A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901632



Internal ID1884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39513835..39521000hg38UCSC Ensembl
chr1:39979507..39986672hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg387166
hg197166
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138028
Supporting Variants
Samples
Known GenesBMP8A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901632
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.072511


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