A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541095



Internal ID15156955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:158891461..159127494hg38UCSC Ensembl
Innerchr7:158684152..158920185hg19UCSC Ensembl
Innerchr7:158376913..158612946hg18UCSC Ensembl
Innerchr7:158183628..158419661hg17UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38236034
hg19236034
hg18236034
hg17236034
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465262
Supporting Variants
Samples1780862379_A
Known GenesLINC00689, VIPR2, WDR60
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)nssv541095
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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