A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042585



Internal ID18785116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:44932303..45028704hg38UCSC Ensembl
Innerchr14:45401506..45497907hg19UCSC Ensembl
Innerchr14:44471256..44567657hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3896402
hg1996402
hg1896402
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1904n100
Supporting Variantsnssv3530439
Samples
Known GenesFAM179B, KLHL28
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042585
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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