A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030184



Internal ID18772715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:162402427..164455529hg38UCSC Ensembl
Innerchr4:163323579..165376681hg19UCSC Ensembl
Innerchr4:163543029..165596131hg18UCSC Ensembl
Cytoband4q32.2
Allele length
AssemblyAllele length
hg382053103
hg192053103
hg182053103
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3634152
Samples
Known GenesANP32C, MARCH1, NAF1, NPY1R, NPY5R, TKTL2, TMA16
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030184
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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