A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18180509



Internal ID20747549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36497701..36503700hg38UCSC Ensembl
chr17:34853545..34859540hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg386000
hg195996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6510440
Supporting Variants
Samples
Known GenesMYO19, ZNHIT3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18180509
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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