A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004488



Internal ID18747019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:54574777..54644934hg38UCSC Ensembl
Innerchr4:55440944..55511101hg19UCSC Ensembl
Innerchr4:55135701..55205858hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3870158
hg1970158
hg1870158
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5210n100
Supporting Variantsnssv3625270
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004488
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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