A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574662



Internal ID16015385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:28867616..29014758hg38UCSC Ensembl
Innerchr17:27194634..27341776hg19UCSC Ensembl
Innerchr17:24218760..24365902hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38147143
hg19147143
hg18147143
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149353
SamplesNINDS_71
Known GenesDHRS13, FLOT2, PHF12, SEZ6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574662
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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