A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4441945



Internal ID22108127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53102572..53102634hg38UCSC Ensembl
chr5:52398402..52398464hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15766244
Samples
Known GenesMOCS2
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4441945
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