A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15180012



Internal ID21318808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1240290..1240400hg38UCSC Ensembl
chr4:1234078..1234188hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3950253
Supporting Variants
SamplesHG002
Known GenesCTBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15180012
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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