A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3980872



Internal ID18862439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:2137170..2139570hg38UCSC Ensembl
Outerchr11:2158400..2160800hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg382401
hg192401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118203
Supporting Variants
SamplesKWS1
Known GenesIGF2, INS-IGF2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3980872
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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