A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465236



Internal ID15525301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:154167580..154225769hg38UCSC Ensembl
Innerchr7:153864665..153922854hg19UCSC Ensembl
Innerchr7:153495598..153553787hg18UCSC Ensembl
Innerchr7:153302313..153360502hg17UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg3858190
hg1958190
hg1858190
hg1758190
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541074
Samples1780854295_A
Known GenesDPP6
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)nsv465236
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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