A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575654



Internal ID16363063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:54359899..54494142hg38UCSC Ensembl
Innerchr17:52437260..52571503hg19UCSC Ensembl
Innerchr17:49792259..49926502hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38134244
hg19134244
hg18134244
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5707n54
Supporting Variantsnssv874069
Samples
Known GenesMIR548AJ2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575654
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer