A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542441



Internal ID15164381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:192580782..192656230hg38UCSC Ensembl
Innerchr1:192549912..192625360hg19UCSC Ensembl
Innerchr1:190816535..190891983hg18UCSC Ensembl
Innerchr1:189281569..189357017hg17UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3875449
hg1975449
hg1875449
hg1775449
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467005
Supporting Variants
SamplesHGDP01348
Known GenesRGS13
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)nssv542441
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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