A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15178957



Internal ID21317753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40212130..40212184hg38UCSC Ensembl
chr3:40253621..40253675hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3953136
Supporting Variants
SamplesHG002
Known GenesEIF1B-AS1, MYRIP
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15178957
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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