A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555646



Internal ID328798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76675918..76675969hg38UCSC Ensembl
chr17:74672000..74672051hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714743
Samples
Known GenesMXRA7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555646
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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