A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17999016



Internal ID20566056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31722155..31723226hg38UCSC Ensembl
chr12:31875089..31876160hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381072
hg191072
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6458179
Supporting Variants
Samples
Known GenesAMN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17999016
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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