A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028880



Internal ID18771412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69937588..71366819hg38UCSC Ensembl
Innerchr5:69233415..70662646hg19UCSC Ensembl
Innerchr5:69269171..70698402hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381429232
hg191429232
hg181429232
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5696n100
Supporting Variantsnssv3641064
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC441081, LOC647859, NAIP, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028880
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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