A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461705



Internal ID15521770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:65469811..65534351hg38UCSC Ensembl
Innerchr1:65935494..66000034hg19UCSC Ensembl
Innerchr1:65708082..65772622hg18UCSC Ensembl
Innerchr1:65647515..65712055hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3864541
hg1964541
hg1864541
hg1764541
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538062
SamplesHGDP00972
Known GenesLEPR
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)nsv461705
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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