A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18006677



Internal ID20573717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99611380..99746362hg38UCSC Ensembl
chr12:100005158..100140140hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38134983
hg19134983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6471648
Supporting Variants
Samples
Known GenesANKS1B, FAM71C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18006677
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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