A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3641063



Internal ID18592658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69937588..71365369hg38UCSC Ensembl
Innerchr5:69233415..70661196hg19UCSC Ensembl
Innerchr5:69269171..70696952hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381427782
hg191427782
hg181427782
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1031985
Supporting Variants
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)nssv3641063
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