A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465721



Internal ID15179100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:81405621..81768032hg38UCSC Ensembl
Innerchr8:82317856..82680267hg19UCSC Ensembl
Innerchr8:82480411..82842822hg18UCSC Ensembl
Innerchr8:82480411..82842822hg17UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38362412
hg19362412
hg18362412
hg17362412
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541471
Samples1798860292_A
Known GenesCHMP4C, FABP12, FABP4, FABP9, IMPA1, PMP2, SLC10A5, ZFAND1
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)nsv465721
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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