A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6315922



Internal ID20848997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231248609..231250126hg38UCSC Ensembl
chr1:231384355..231385872hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg381518
hg191518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18059394
Samples
Known GenesGNPAT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6315922
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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