A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465193



Internal ID15178572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147815527..147886588hg38UCSC Ensembl
Innerchr7:147512619..147583680hg19UCSC Ensembl
Innerchr7:147143552..147214613hg18UCSC Ensembl
Innerchr7:146950267..147021328hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3871062
hg1971062
hg1871062
hg1771062
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541044
SamplesHGDP00822
Known GenesCNTNAP2
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)nsv465193
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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