A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17998579



Internal ID20565619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29358114..29358666hg38UCSC Ensembl
chr12:29511047..29511599hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38553
hg19553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6466035
Supporting Variants
Samples
Known GenesERGIC2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17998579
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0007


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