A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053324



Internal ID19142543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:27318256..27420470hg38UCSC Ensembl
Innerchr10:27607185..27709399hg19UCSC Ensembl
Innerchr10:27647191..27749405hg18UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38102215
hg19102215
hg18102215
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv696n100
Supporting Variantsnssv3519019, nssv3504061
Samples
Known GenesPTCHD3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053324
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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