A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4447950



Internal ID22114128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82099411..82099748hg38UCSC Ensembl
chr7:81728727..81729064hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15768125
Samples
Known GenesCACNA2D1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4447950
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