A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001502



Internal ID20568542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54459685..54460105hg38UCSC Ensembl
chr12:54853469..54853889hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6462904
Supporting Variants
Samples
Known GenesGTSF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001502
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.06138


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