A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040992



Internal ID18783523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:87933942..87956225hg38UCSC Ensembl
Innerchr14:88400286..88422569hg19UCSC Ensembl
Innerchr14:87470039..87492322hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3822284
hg1922284
hg1822284
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1954n100
Supporting Variantsnssv3532575
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)nsv1040992
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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