A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181641



Internal ID20748681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73831787..74694861hg38UCSC Ensembl
chr17:71827926..72691000hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38863075
hg19863075
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6532687
Supporting Variants
Samples
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, CD300LF, DNAI2, GPR142, GPRC5C, KIF19, MGC16275, RAB37, RPL38, TTYH2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181641
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00048


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