A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv664588



Internal ID15054554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228268446..228493494hg38UCSC Ensembl
Innerchr1:228456147..228681195hg19UCSC Ensembl
Innerchr1:226522770..226747818hg18UCSC Ensembl
Innerchr1:224762882..224987930hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38225049
hg19225049
hg18225049
hg17225049
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517545
Supporting Variants
Samples
Known GenesHIST3H2A, HIST3H2BB, HIST3H3, MIR4666A, MIR6742, OBSCN, RNF187, TRIM11, TRIM17
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv664588
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