A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000017



Internal ID19089234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:197643554..197687369hg38UCSC Ensembl
Innerchr2:198508278..198552093hg19UCSC Ensembl
Innerchr2:198216523..198260338hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3843816
hg1943816
hg1843816
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729328
Samples
Known GenesRFTN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000017
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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