A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045257



Internal ID18787788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:27283511..27638017hg38UCSC Ensembl
Innerchr10:27572440..27926946hg19UCSC Ensembl
Innerchr10:27612446..27966952hg18UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38354507
hg19354507
hg18354507
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3707732
Samples
Known GenesPTCHD3, RAB18
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045257
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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