A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6532687



Internal ID20906048
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 StatusM
Merged Variants
Supporting Variantsnssv18181641
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)nsv6532687
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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