A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv680377



Internal ID15070343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:115996478..115998346hg38UCSC Ensembl
Innerchr5:115332175..115334043hg19UCSC Ensembl
Innerchr5:115360074..115361942hg18UCSC Ensembl
Innerchr5:115360074..115361942hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg381869
hg191869
hg181869
hg171869
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515611
Supporting Variants
Samples
Known GenesAQPEP
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv680377
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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