A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512485



Internal ID15505224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:38806997..38808752hg38UCSC Ensembl
Outerchr17:36963250..36965005hg19UCSC Ensembl
Outerchr17:34216776..34218531hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381756
hg191756
hg181756
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625084
Samples1
Known GenesCWC25
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512485
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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