A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120610



Internal ID18940255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:106915512..106918846hg38UCSC Ensembl
Outerchr11:106786238..106789572hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg383335
hg193335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv718n106
Supporting Variantsnssv3963032
SamplesKWS1
Known GenesGUCY1A2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120610
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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