A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574612



Internal ID16362021
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv868951, nssv1149349, nssv1149350, nssv1149348
SamplesHGDP00290, HGDP00298, HGDP00302
Known GenesFAM27L, FLJ36000, MTRNR2L1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574612
Frequency
Sample Size17421
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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