A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6364078



Internal ID21021631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112707669..113634469hg38UCSC Ensembl
chr3:112426516..113353316hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38926801
hg19926801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18207852
Samples
Known GenesBOC, C3orf17, CD200R1, CD200R1L, GTPBP8, MIR4446, MIR8076, SIDT1, SPICE1, WDR52, WDR52-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6364078
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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