A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3649213



Internal ID18947494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176048789..176241562hg38UCSC Ensembl
Innerchr5:175475792..175668565hg19UCSC Ensembl
Innerchr5:175408398..175601171hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38192774
hg19192774
hg18192774
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1027995
Supporting Variants
Samples
Known GenesFAM153B, LOC100507387, LOC100996385, LOC643201, SIMC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3649213
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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