A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465505



Internal ID15178884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:11502433..11541062hg38UCSC Ensembl
Innerchr1:11562490..11601119hg19UCSC Ensembl
Innerchr1:11485077..11523706hg18UCSC Ensembl
Innerchr1:11496756..11535385hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3838630
hg1938630
hg1838630
hg1738630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541299
SamplesHGDP00857
Known GenesPTCHD2
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)nsv465505
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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