A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455700



Internal ID15515765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:100487230..100542549hg38UCSC Ensembl
Innerchr12:100881008..100936327hg19UCSC Ensembl
Innerchr12:99405139..99460458hg18UCSC Ensembl
Innerchr12:99383476..99438795hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3855320
hg1955320
hg1855320
hg1755320
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533207
SamplesNINDS_36
Known GenesNR1H4
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)nsv455700
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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