A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4449248



Internal ID22115425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9123310..9123394hg38UCSC Ensembl
chr1:9183369..9183453hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15767596
Samples
Known GenesGPR157
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4449248
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer