A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537695



Internal ID15504824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40881556..40908771hg38UCSC Ensembl
Innerchr1:41347228..41374443hg19UCSC Ensembl
Innerchr1:41119815..41147030hg18UCSC Ensembl
Innerchr1:41016321..41043536hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3827216
hg1927216
hg1827216
hg1727216
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461284
Supporting Variants
Samples1798860336_A
Known Genes
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)nssv537695
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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