A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461784



Internal ID15175163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:69765852..69840562hg38UCSC Ensembl
Innerchr1:70231535..70306245hg19UCSC Ensembl
Innerchr1:70004123..70078833hg18UCSC Ensembl
Innerchr1:69943556..70018266hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3874711
hg1974711
hg1874711
hg1774711
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538136
SamplesHGDP01285
Known GenesLRRC7
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)nsv461784
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer