A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540459



Internal ID15511788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75700353..75750787hg38UCSC Ensembl
Innerchr7:75329671..75380105hg19UCSC Ensembl
Innerchr7:75167607..75218041hg18UCSC Ensembl
Innerchr7:74974322..75024756hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3850435
hg1950435
hg1850435
hg1750435
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464564
Supporting Variants
SamplesNINDS_147
Known GenesHIP1
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)nssv540459
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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