A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6547554



Internal ID20920755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30361626..30366312hg38UCSC Ensembl
chr22:30757615..30762301hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg384687
hg194687
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18073674
Samples
Known GenesCCDC157
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6547554
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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