A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533202



Internal ID15505533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:95895082..95916861hg38UCSC Ensembl
Innerchr12:96288860..96310639hg19UCSC Ensembl
Innerchr12:94812991..94834770hg18UCSC Ensembl
Innerchr12:94791328..94813107hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3821780
hg1921780
hg1821780
hg1721780
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455694
Supporting Variants
SamplesHGDP00148
Known GenesCCDC38
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)nssv533202
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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