A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17999015



Internal ID20566055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31675060..31677126hg38UCSC Ensembl
chr12:31827994..31830060hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382067
hg192067
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6463602
Supporting Variants
Samples
Known GenesAMN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17999015
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00663


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