A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5845532



Internal ID22620467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49962366..49967909hg38UCSC Ensembl
chr6:49930079..49935622hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg385544
hg195544
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17505895
Samples
Known GenesDEFB114
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5845532
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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