A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714520



Internal ID138186
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 Variantsnsv5521504
Supporting Variants
Samples
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, CD300LF, DNAI2, GPR142, GPRC5C, KIF19, MGC16275, RAB37, RPL38, TTYH2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714520
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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