A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17598212



Internal ID21790256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53428191..53428191hg38UCSC Ensembl
chr12:53821975..53821975hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6094236
Supporting Variants
Samples
Known GenesAMHR2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17598212
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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