A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970405



Internal ID22745340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9093829..9093829hg38UCSC Ensembl
chr12:9246425..9246425hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17356742
Samples
Known GenesA2M
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970405
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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