A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997064



Internal ID20564104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1149428..1374498hg38UCSC Ensembl
chr12:1258594..1483664hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38225071
hg19225071
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6464948
Supporting Variants
Samples
Known GenesERC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997064
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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