A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575653



Internal ID16363062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:54350547..54467160hg38UCSC Ensembl
Innerchr17:52427908..52544521hg19UCSC Ensembl
Innerchr17:49782907..49899520hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38116614
hg19116614
hg18116614
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5707n54
Supporting Variantsnssv1150565
Samples1780854462_A
Known GenesMIR548AJ2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575653
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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