A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136788



Internal ID18929314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:185665497..185665548hg38UCSC Ensembl
Outerchr3:185383285..185383336hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974695
SamplesKWS2
Known GenesIGF2BP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136788
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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