A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464693



Internal ID15178072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:114446139..114505251hg38UCSC Ensembl
Innerchr7:114086194..114145306hg19UCSC Ensembl
Innerchr7:113873430..113932542hg18UCSC Ensembl
Innerchr7:113680145..113739257hg17UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3859113
hg1959113
hg1859113
hg1759113
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540566
SamplesHGDP00043
Known GenesFOXP2
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)nsv464693
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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