A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv539273



Internal ID15163901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:111195294..111519590hg38UCSC Ensembl
Innerchr1:111737916..112062212hg19UCSC Ensembl
Innerchr1:111539439..111863735hg18UCSC Ensembl
Innerchr1:111449958..111774254hg17UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38324297
hg19324297
hg18324297
hg17324297
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv463250
Supporting Variants
SamplesHGDP01268
Known GenesADORA3, ATP5F1, C1orf162, CHI3L2, CHIA, CHIAP2, DENND2D, OVGP1, PGCP1, PIFO, WDR77
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)nssv539273
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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