A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6324749



Internal ID20857877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145970644..145974388hg38UCSC Ensembl
chr1:145460700..145464446hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg383745
hg193747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18052133
Samples
Known GenesLOC100288142, NBPF10, POLR3GL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6324749
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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