A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466206



Internal ID15179585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:178700536..178874759hg38UCSC Ensembl
Innerchr1:178669671..178843894hg19UCSC Ensembl
Innerchr1:176936294..177110517hg18UCSC Ensembl
Innerchr1:175401328..175575551hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38174224
hg19174224
hg18174224
hg17174224
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541816
SamplesHGDP00554
Known GenesANGPTL1, RALGPS2
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)nsv466206
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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