A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456452



Internal ID15516517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40663276..40761921hg38UCSC Ensembl
Innerchr2:40890416..40989061hg19UCSC Ensembl
Innerchr2:40743920..40842565hg18UCSC Ensembl
Innerchr2:40802067..40900712hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3898646
hg1998646
hg1898646
hg1798646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533766
Samples1780854449_A
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)nsv456452
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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