A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461332



Internal ID15521397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:36079621..36127865hg38UCSC Ensembl
Innerchr4:36081243..36129487hg19UCSC Ensembl
Innerchr4:35757638..35805882hg18UCSC Ensembl
Innerchr4:35903809..35952053hg17UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3848245
hg1948245
hg1848245
hg1748245
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537733
SamplesHGDP01416
Known GenesARAP2
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)nsv461332
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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