A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190500



Internal ID20757540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:13514632..14440884hg38UCSC Ensembl
chr17:13417949..14344201hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38926253
hg19926253
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6500237
Supporting Variants
Samples
Known GenesCDRT15, CDRT15P1, COX10, COX10-AS1, HS3ST3A1, HS3ST3B1, MGC12916
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190500
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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