A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527149



Internal ID303254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3007000..3012000hg38UCSC Ensembl
chr17:2910294..2915294hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710362
Samples
Known GenesRAP1GAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527149
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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