A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004558



Internal ID18747089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:71140729..71199552hg38UCSC Ensembl
Innerchr4:72006446..72065269hg19UCSC Ensembl
Innerchr4:72225310..72284133hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3858824
hg1958824
hg1858824
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3633076
Samples
Known GenesSLC4A4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004558
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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