A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547929



Internal ID15988652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:153649744..153750561hg38UCSC Ensembl
Innerchr1:153622220..153723037hg19UCSC Ensembl
Innerchr1:151888844..151989661hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38100818
hg19100818
hg18100818
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv582n54
Supporting Variantsnssv1173204
Samples1780862424_A
Known GenesILF2, INTS3, MIR8083, NPR1, SNAPIN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547929
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