A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994538



Internal ID19217853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:2049806..2050606hg38UCSC Ensembl
Outerchr17:1953100..1953900hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143842
Supporting Variants
SamplesKWS1
Known GenesMIR132, MIR212
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994538
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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