A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1127569



Internal ID18922942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:40069084..40069171hg38UCSC Ensembl
Outerchr17:38225337..38225424hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955312
SamplesKWS1
Known GenesTHRA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1127569
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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