A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046028



Internal ID18788559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73957079..74032042hg38UCSC Ensembl
Innerchr14:74423782..74498745hg19UCSC Ensembl
Innerchr14:73493535..73568498hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3874964
hg1974964
hg1874964
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531158
Samples
Known GenesCCDC176, COQ6, ENTPD5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046028
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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