A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468795



Internal ID15182174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:94131155..94231751hg38UCSC Ensembl
Innerchr11:93864321..93964917hg19UCSC Ensembl
Innerchr11:93503969..93604565hg18UCSC Ensembl
Innerchr11:93503969..93604565hg17UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38100597
hg19100597
hg18100597
hg17100597
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543877
SamplesHGDP01254
Known GenesPANX1
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)nsv468795
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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