A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537572



Internal ID15506566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195096755..195241159hg38UCSC Ensembl
Innerchr3:194817484..194961888hg19UCSC Ensembl
Innerchr3:196298773..196443177hg18UCSC Ensembl
Innerchr3:196298781..196443185hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38144405
hg19144405
hg18144405
hg17144405
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv461126
Supporting Variants
SamplesHGDP00525
Known GenesXXYLT1, XXYLT1-AS2
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)nssv537572
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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