A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504694



Internal ID281490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6752414..6752513hg38UCSC Ensembl
chr12:6861580..6861679hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055042
Samples
Known GenesMLF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504694
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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