A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537793



Internal ID15155728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:44752870..44827846hg38UCSC Ensembl
Innerchr1:45218542..45293518hg19UCSC Ensembl
Innerchr1:44991129..45066105hg18UCSC Ensembl
Innerchr1:44887635..44962611hg17UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3874977
hg1974977
hg1874977
hg1774977
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461406
Supporting Variants
Samples1780854339_A
Known GenesBEST4, BTBD19, KIF2C, PLK3, PTCH2, RPS8, SNORD38A, SNORD38B, SNORD46, SNORD55, TCTEX1D4
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)nssv537793
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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