A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482906



Internal ID260351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:110562779..110707000hg38UCSC Ensembl
chr7:110202836..110347056hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38144222
hg19144221
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17004160
Samples
Known GenesIMMP2L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482906
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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