A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467214



Internal ID15527279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:54121960..54188954hg38UCSC Ensembl
Innerchr10:55881720..55948714hg19UCSC Ensembl
Innerchr10:55551726..55618720hg18UCSC Ensembl
Innerchr10:55551726..55618720hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3866995
hg1966995
hg1866995
hg1766995
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542559
SamplesHGDP01237
Known GenesPCDH15
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)nsv467214
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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