A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3530440



Internal ID18482035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:44946394..45018700hg38UCSC Ensembl
Innerchr14:45415597..45487903hg19UCSC Ensembl
Innerchr14:44485347..44557653hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3872307
hg1972307
hg1872307
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1045869
Supporting Variants
Samples
Known GenesFAM179B, KLHL28
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3530440
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