A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464546



Internal ID15524611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:70606934..70635361hg38UCSC Ensembl
Innerchr7:70071920..70100347hg19UCSC Ensembl
Innerchr7:69709856..69738283hg18UCSC Ensembl
Innerchr7:69516571..69544998hg17UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg3828428
hg1928428
hg1828428
hg1728428
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540442
SamplesHGDP00971
Known GenesAUTS2
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)nsv464546
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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