A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139672



Internal ID19287247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:22745173..22763473hg38UCSC Ensembl
Outerchr17:22244500..22262800hg19UCSC Ensembl
Cytoband17p11.1
Allele length
AssemblyAllele length
hg3818301
hg1918301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959105, nssv3977326
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139672
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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