A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540214



Internal ID15509411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:3915884..4573976hg38UCSC Ensembl
Innerchr7:3955516..4613607hg19UCSC Ensembl
Innerchr7:3922042..4580133hg18UCSC Ensembl
Innerchr7:3728757..4386848hg17UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38658093
hg19658092
hg18658092
hg17658092
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464274
Supporting Variants
SamplesHGDP01001
Known GenesSDK1
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)nssv540214
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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