A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455696



Internal ID15515761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:98678114..98714510hg38UCSC Ensembl
Innerchr12:99071892..99108288hg19UCSC Ensembl
Innerchr12:97596023..97632419hg18UCSC Ensembl
Innerchr12:97574360..97610756hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3836397
hg1936397
hg1836397
hg1736397
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533204
SamplesHGDP00568
Known GenesAPAF1
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)nsv455696
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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