A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3946301



Internal ID21366372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39150936..39151034hg38UCSC Ensembl
chr8:39008455..39008553hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15199556
SamplesHG002
Known GenesADAM32
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3946301
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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