A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6039230



Internal ID21948573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49165445..49165511hg38UCSC Ensembl
chr17:47242807..47242873hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17631424
Samples
Known GenesB4GALNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6039230
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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