A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542546



Internal ID15156613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:51796233..51842430hg38UCSC Ensembl
Innerchr10:53555993..53602190hg19UCSC Ensembl
Innerchr10:53225999..53272196hg18UCSC Ensembl
Innerchr10:53225999..53272196hg17UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3846198
hg1946198
hg1846198
hg1746198
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467197
Supporting Variants
Samples1780862176_A
Known GenesPRKG1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv542546
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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