A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974233



Internal ID22749168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70626265..70626265hg38UCSC Ensembl
chr12:71020045..71020045hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38525
hg19525
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17356728
Samples
Known GenesPTPRB
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974233
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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