A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466105



Internal ID15526170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:176698674..176757966hg38UCSC Ensembl
Innerchr1:176667810..176727102hg19UCSC Ensembl
Innerchr1:174934433..174993725hg18UCSC Ensembl
Innerchr1:173399467..173458759hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3859293
hg1959293
hg1859293
hg1759293
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541737
Samples1780862081_A
Known GenesPAPPA2
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)nsv466105
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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