A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149348



Internal ID15873668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:22177812..22743028hg38UCSC Ensembl
Innerchr17:21704418..22242355hg19UCSC Ensembl
Innerchr17:21628545..22166482hg18UCSC Ensembl
Cytoband17p11.1
Allele length
AssemblyAllele length
hg38565217
hg19537938
hg18537938
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv574612
Supporting Variants
SamplesHGDP00290
Known GenesFAM27L, FLJ36000, MTRNR2L1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149348
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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