A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457407



Internal ID15517472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:48187596..48266043hg38UCSC Ensembl
Innerchr2:48414735..48493182hg19UCSC Ensembl
Innerchr2:48268239..48346686hg18UCSC Ensembl
Innerchr2:48326386..48404833hg17UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3878448
hg1978448
hg1878448
hg1778448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534602
SamplesNINDS_46
Known Genes
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)nsv457407
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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