A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138546



Internal ID19262389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:45152816..45152874hg38UCSC Ensembl
Outerchr17:43230183..43230241hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991135
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138546
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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