A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv87n27



Internal ID20132345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46224041..46279254hg38UCSC Ensembl
chr10:47595277..47650490hg19UCSC Ensembl
chr10:47065283..47120496hg18UCSC Ensembl
chr10:47065283..47120496hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3855214
hg1955214
hg1855214
hg1755214
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv467066, nsv467067, nsv467065
SamplesNINDS_102, NINDS_44, NINDS_197
Known GenesANTXRLP1
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)dgv87n27
Frequency
Sample Size1557
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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