A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6500237



Internal ID20873462
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 StatusM
Merged Variants
Supporting Variantsnssv18190500
Samples
Known GenesCDRT15, CDRT15P1, COX10, COX10-AS1, HS3ST3A1, HS3ST3B1, MGC12916
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6500237
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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