A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17362754



Internal ID22588423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31675060..31677125hg38UCSC Ensembl
chr12:31827994..31830059hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382066
hg192066
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5911690
Supporting Variants
Samples
Known GenesAMN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17362754
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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