A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18036039



Internal ID20603079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40636970..40637673hg38UCSC Ensembl
chr17:38793222..38793925hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38704
hg19704
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6507886
Supporting Variants
Samples
Known GenesSMARCE1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18036039
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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