A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468049



Internal ID15528114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:206894495..206963993hg38UCSC Ensembl
Innerchr1:207067840..207137338hg19UCSC Ensembl
Innerchr1:205134463..205203961hg18UCSC Ensembl
Innerchr1:203456235..203525733hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3869499
hg1969499
hg1869499
hg1769499
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543183
SamplesNINDS_21
Known GenesFAIM3, FCAMR, IL24, PIGR
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)nsv468049
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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