A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1174053



Internal ID15874602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228493494..228543976hg38UCSC Ensembl
Innerchr1:228681195..228731677hg19UCSC Ensembl
Innerchr1:226747818..226798300hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3850483
hg1950483
hg1850483
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549298
Supporting Variants
SamplesHGDP00560
Known GenesRNF187
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1174053
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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