A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18002513



Internal ID20569553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6969283..7007964hg38UCSC Ensembl
chr12:7078446..7115269hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3838682
hg1936824
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6473997
Supporting Variants
Samples
Known GenesEMG1, LPCAT3, PHB2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18002513
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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