A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121927



Internal ID19256044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:2049906..2050506hg38UCSC Ensembl
Outerchr17:1953200..1953800hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1403n106
Supporting Variantsnssv3968593
SamplesKWS2
Known GenesMIR132, MIR212
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121927
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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