A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461576



Internal ID8488623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:88621130..90539537hg38UCSC Ensembl
Innerchr4:89542281..91460688hg19UCSC Ensembl
Innerchr4:89761304..91679711hg18UCSC Ensembl
Innerchr4:89899459..91817866hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg381918408
hg191918408
hg181918408
hg171918408
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537951
SamplesHGDP00721
Known GenesCCSER1, FAM13A, FAM13A-AS1, GPRIN3, HERC3, LOC644248, MMRN1, NAP1L5, SNCA, TIGD2
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)nsv461576
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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