A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049442



Internal ID19138661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:53878980..53921242hg38UCSC Ensembl
Innerchr10:55638740..55681002hg19UCSC Ensembl
Innerchr10:55308746..55351008hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3842263
hg1942263
hg1842263
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3515967
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)nsv1049442
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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