A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18180281



Internal ID20747321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4549613..4606741hg38UCSC Ensembl
chr17:4452908..4510036hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3857129
hg1957129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6513270
Supporting Variants
Samples
Known GenesGGT6, MYBBP1A, SMTNL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18180281
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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