A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv539372



Internal ID15502375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121422747..121570001hg38UCSC Ensembl
Innerchr1:121164607..121311799hg19UCSC Ensembl
Innerchr1:120866130..121013322hg18UCSC Ensembl
Innerchr1:120776649..120923841hg17UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38147255
hg19147193
hg18147193
hg17147193
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv463350
Supporting Variants
Samples1780854327_A
Known GenesEMBP1
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)nssv539372
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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