A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540458



Internal ID15161592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74102784..74237706hg38UCSC Ensembl
Innerchr7:73517114..73652036hg19UCSC Ensembl
Innerchr7:73155050..73289972hg18UCSC Ensembl
Innerchr7:72961765..73096687hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38134923
hg19134923
hg18134923
hg17134923
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464563
Supporting Variants
SamplesHGDP00791
Known GenesEIF4H, LAT2, LIMK1, MIR590, RFC2
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)nssv540458
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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