A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484127



Internal ID261547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:110806700..110936737hg38UCSC Ensembl
chr7:110446756..110576793hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38130038
hg19130038
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17002273
Samples
Known GenesIMMP2L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484127
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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