A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15747487



Internal ID21389577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29680582..29681331hg38UCSC Ensembl
chr17:28007600..28008349hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38750
hg19750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4432499
Supporting Variants
SamplesNB09
Known GenesSSH2
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15747487
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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