A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049369



Internal ID19138588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:27318256..27407511hg38UCSC Ensembl
Innerchr10:27607185..27696440hg19UCSC Ensembl
Innerchr10:27647191..27736446hg18UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg3889256
hg1989256
hg1889256
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv696n100
Supporting Variantsnssv3514435, nssv3518169, nssv3707733
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)nsv1049369
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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