A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048504



Internal ID18791035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66586328..66654023hg38UCSC Ensembl
Innerchr14:67053046..67120741hg19UCSC Ensembl
Innerchr14:66122799..66190494hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3867696
hg1967696
hg1867696
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1928n100
Supporting Variantsnssv3531092, nssv3531090, nssv3531091
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)nsv1048504
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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