A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465203



Internal ID15525268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:149759270..149786285hg38UCSC Ensembl
Innerchr7:149456359..149483373hg19UCSC Ensembl
Innerchr7:149087292..149114306hg18UCSC Ensembl
Innerchr7:148894007..148921021hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3827016
hg1927015
hg1827015
hg1727015
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv844n27
Supporting Variantsnssv541048
SamplesHGDP01163
Known GenesSSPO, ZNF467
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)nsv465203
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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