A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3951945



Internal ID21372014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60819064..60819134hg38UCSC Ensembl
chr5:60114891..60114961hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15197480
SamplesHG002
Known GenesELOVL7
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3951945
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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