A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006053



Internal ID18748584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:234032646..234054797hg38UCSC Ensembl
Innerchr2:234941290..234963441hg19UCSC Ensembl
Innerchr2:234606029..234628180hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3822152
hg1922152
hg1822152
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4190n100
Supporting Variantsnssv3586915
Samples
Known GenesSPP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006053
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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