A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538190



Internal ID15164117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:70976943..71041858hg38UCSC Ensembl
Innerchr1:71442626..71507541hg19UCSC Ensembl
Innerchr1:71215214..71280129hg18UCSC Ensembl
Innerchr1:71154647..71219562hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3864916
hg1964916
hg1864916
hg1764916
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461851
Supporting Variants
SamplesHGDP01303
Known GenesPTGER3
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)nssv538190
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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