A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043144



Internal ID19132363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:54573143..54920505hg38UCSC Ensembl
Innerchr10:56332903..56680265hg19UCSC Ensembl
Innerchr10:56002909..56350271hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38347363
hg19347363
hg18347363
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3514840
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)nsv1043144
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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