A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17999013



Internal ID20566053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31671567..31671968hg38UCSC Ensembl
chr12:31824501..31824902hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6458516
Supporting Variants
Samples
Known GenesAMN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17999013
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00067


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