A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025283



Internal ID18767815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69571455..71011568hg38UCSC Ensembl
Innerchr5:68867282..70307395hg19UCSC Ensembl
Innerchr5:68903038..70343151hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381440114
hg191440114
hg181440114
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5695n100
Supporting Variantsnssv3747256
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, 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)nsv1025283
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