A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1034863



Internal ID15541363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69958474..71192373hg38UCSC Ensembl
Innerchr5:69254301..70488200hg19UCSC Ensembl
Innerchr5:69290057..70523956hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381233900
hg191233900
hg181233900
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598489
Supporting Variants
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)nssv1034863
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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