A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598536



Internal ID16039259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70409783..71083639hg38UCSC Ensembl
Innerchr5:69705610..70379466hg19UCSC Ensembl
Innerchr5:69741366..70415222hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38673857
hg19673857
hg18673857
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034918
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC441081, LOC647859, NAIP, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598536
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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