A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030247



Internal ID19119466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:84491086..84620325hg38UCSC Ensembl
Innerchr5:83786904..83916143hg19UCSC Ensembl
Innerchr5:83822660..83951899hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38129240
hg19129240
hg18129240
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5710n100
Supporting Variantsnssv3639159
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)nsv1030247
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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