A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18003249



Internal ID20570289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7440101..7440700hg38UCSC Ensembl
chr12:7592697..7593296hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6457629
Supporting Variants
Samples
Known GenesCD163L1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18003249
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.04181


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