A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv551495



Internal ID15992218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:70852412..70891937hg38UCSC Ensembl
Innerchr10:72612169..72651694hg19UCSC Ensembl
Innerchr10:72282175..72321700hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3839526
hg1939526
hg1839526
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv750257
Samples
Known GenesPCBD1, SGPL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv551495
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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