A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540319



Internal ID15163729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:17046315..17715960hg38UCSC Ensembl
Innerchr7:17085939..17755584hg19UCSC Ensembl
Innerchr7:17052464..17722109hg18UCSC Ensembl
Innerchr7:16859179..17528824hg17UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38669646
hg19669646
hg18669646
hg17669646
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464399
Supporting Variants
SamplesHGDP01240
Known GenesAHR
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)nssv540319
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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