A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3641001



Internal ID18592596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69779138..71011705hg38UCSC Ensembl
Innerchr5:69074965..70307532hg19UCSC Ensembl
Innerchr5:69110721..70343288hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381232568
hg191232568
hg181232568
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1032364
Supporting Variants
Samples
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, 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)nssv3641001
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