A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464440



Internal ID15524505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:42081954..42112000hg38UCSC Ensembl
Innerchr7:42121553..42151599hg19UCSC Ensembl
Innerchr7:42088078..42118124hg18UCSC Ensembl
Innerchr7:41894793..41924839hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3830047
hg1930047
hg1830047
hg1730047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540356
Samples1798860010_A
Known GenesGLI3
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)nsv464440
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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