A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4747949



Internal ID20523972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40510990..40517403hg38UCSC Ensembl
chr1:40976662..40983075hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg386414
hg196414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16279071
Samples
Known GenesEXO5
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4747949
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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