A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544323



Internal ID15504659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:66613290..66644815hg38UCSC Ensembl
Innerchr12:67007070..67038595hg19UCSC Ensembl
Innerchr12:65293337..65324862hg18UCSC Ensembl
Innerchr12:65293337..65324862hg17UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3831526
hg1931526
hg1831526
hg1731526
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469461
Supporting Variants
Samples1788485588_A
Known GenesGRIP1
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)nssv544323
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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