A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455711



Internal ID15169090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:108884971..108917078hg38UCSC Ensembl
Innerchr12:109278747..109310854hg19UCSC Ensembl
Innerchr12:107802876..107834983hg18UCSC Ensembl
Innerchr12:107781213..107813320hg17UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3832108
hg1932108
hg1832108
hg1732108
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533214
Samples1780862021_A
Known GenesDAO, SVOP
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)nsv455711
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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