A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052057



Internal ID18794588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:53792127..53821891hg38UCSC Ensembl
Innerchr10:55551887..55581651hg19UCSC Ensembl
Innerchr10:55221893..55251657hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3829765
hg1929765
hg1829765
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv861n100
Supporting Variantsnssv3514913, nssv3519256
Samples
Known GenesPCDH15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052057
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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