A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537703



Internal ID15507233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40881556..40914871hg38UCSC Ensembl
Innerchr1:41347228..41380543hg19UCSC Ensembl
Innerchr1:41119815..41153130hg18UCSC Ensembl
Innerchr1:41016321..41049636hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3833316
hg1933316
hg1833316
hg1733316
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461295
Supporting Variants
SamplesHGDP00628
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)nssv537703
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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