A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434953



Internal ID213613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178649618..178656000hg38UCSC Ensembl
chr2:179514345..179520727hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg386383
hg196383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922587
Samples
Known GenesMIR548N, TTN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434953
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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