A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053549



Internal ID19142768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:27318976..27424596hg38UCSC Ensembl
Innerchr10:27607905..27713525hg19UCSC Ensembl
Innerchr10:27647911..27753531hg18UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38105621
hg19105621
hg18105621
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv696n100
Supporting Variantsnssv3522606
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)nsv1053549
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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