A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040383



Internal ID18782914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66518523..66574905hg38UCSC Ensembl
Innerchr14:66985241..67041623hg19UCSC Ensembl
Innerchr14:66054994..66111376hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3856383
hg1956383
hg1856383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1927n100
Supporting Variantsnssv3531089
Samples
Known GenesGPHN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040383
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