A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1127586



Internal ID19263085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:60174069..60174543hg38UCSC Ensembl
Outerchr17:58251430..58251904hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955330
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1127586
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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