A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18003572



Internal ID20570612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75336647..75337247hg38UCSC Ensembl
chr12:75730427..75731027hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6469158
Supporting Variants
Samples
Known GenesCAPS2, GLIPR1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18003572
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00319


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