A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464730



Internal ID15524795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:137140775..137198178hg38UCSC Ensembl
Innerchr7:136825522..136882925hg19UCSC Ensembl
Innerchr7:136476062..136533465hg18UCSC Ensembl
Innerchr7:136282777..136340180hg17UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3857404
hg1957404
hg1857404
hg1757404
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540588
SamplesHGDP01238
Known GenesLOC349160
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)nsv464730
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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