A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462394



Internal ID15522459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:7126265..7171424hg38UCSC Ensembl
Innerchr1:7186325..7231484hg19UCSC Ensembl
Innerchr1:7108912..7154071hg18UCSC Ensembl
Innerchr1:7120591..7165750hg17UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3845160
hg1945160
hg1845160
hg1745160
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538567
SamplesHGDP00797
Known GenesCAMTA1
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)nsv462394
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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