A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550961



Internal ID15991684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:54485705..54513792hg38UCSC Ensembl
Innerchr10:56245465..56273552hg19UCSC Ensembl
Innerchr10:55915471..55943558hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3828088
hg1928088
hg1828088
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1156n54
Supporting Variantsnssv1173898
SamplesHGDP01263
Known GenesPCDH15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550961
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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