A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18177572



Internal ID20744612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46098250..47084546hg38UCSC Ensembl
chr17:44175616..45161912hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38986297
hg19986297
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6497344
Supporting Variants
Samples
Known GenesARL17A, ARL17B, GOSR2, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, MIR5089, NSF, NSFP1, RPRML, WNT3, WNT9B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18177572
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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