A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3561050



Internal ID18512645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31274278..31322138hg38UCSC Ensembl
Innerchr17:29601296..29649156hg19UCSC Ensembl
Innerchr17:26625422..26673282hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3847861
hg1947861
hg1847861
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1061870
Supporting Variants
Samples
Known GenesEVI2A, EVI2B, NF1, OMG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3561050
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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