A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046684



Internal ID18789215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:87932015..87953014hg38UCSC Ensembl
Innerchr14:88398359..88419358hg19UCSC Ensembl
Innerchr14:87468112..87489111hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3821000
hg1921000
hg1821000
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1954n100
Supporting Variantsnssv3711373, nssv3532560, nssv3532562, nssv3532559, nssv3711374, nssv3532563, nssv3532561
Samples
Known GenesGALC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046684
Frequency
Sample Size29084
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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