A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997983



Internal ID19157520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:40404675..40471767hg38UCSC Ensembl
Innerchr4:40406692..40473784hg19UCSC Ensembl
Innerchr4:40101449..40168541hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3867093
hg1967093
hg1867093
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3739355
Samples
Known GenesRBM47
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997983
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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