A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6317947



Internal ID20851037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108759101..108760600hg38UCSC Ensembl
chr1:109301723..109303222hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18051122
Samples
Known GenesSTXBP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6317947
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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