A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5925156



Internal ID22700383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8656198..8656804hg38UCSC Ensembl
chr12:8808794..8809400hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38607
hg19607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354963
Samples
Known GenesMFAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5925156
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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