A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537481



Internal ID15159510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:31699894..31749577hg38UCSC Ensembl
Innerchr1:32165495..32215178hg19UCSC Ensembl
Innerchr1:31938082..31987765hg18UCSC Ensembl
Innerchr1:31834588..31884271hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3849684
hg1949684
hg1849684
hg1749684
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461028
Supporting Variants
SamplesHGDP00433
Known GenesBAI2, COL16A1
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)nssv537481
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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