A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4739946



Internal ID20515921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56470173..56470912hg38UCSC Ensembl
chr12:56863957..56864696hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38740
hg19740
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16266640
Samples
Known GenesSPRYD4
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4739946
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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