A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17386546



Internal ID22444416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39496147..39496267hg38UCSC Ensembl
chr1:39961819..39961939hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5873918
Supporting Variants
Samples
Known GenesBMP8A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17386546
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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