A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594137



Internal ID16381546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:48746288..48761146hg38UCSC Ensembl
Innerchr4:48748305..48763163hg19UCSC Ensembl
Innerchr4:48443062..48457920hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3814859
hg1914859
hg1814859
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv997610
Samples
Known GenesFRYL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594137
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