A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549524



Internal ID15990247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:245964475..246228375hg38UCSC Ensembl
Innerchr1:246127777..246391677hg19UCSC Ensembl
Innerchr1:244194400..244458300hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38263901
hg19263901
hg18263901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174089
SamplesHGDP01007
Known GenesSMYD3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549524
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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