A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055946



Internal ID19145165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:150721..233494hg38UCSC Ensembl
Innerchr17:514..83285hg19UCSC Ensembl
Innerchr17:514..83285hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3882774
hg1982772
hg1882772
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3069n100
Supporting Variantsnssv3560030
Samples
Known GenesDOC2B, LOC100506371, RPH3AL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055946
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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