A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992672



Internal ID18860109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:75621630..75621717hg38UCSC Ensembl
Outerchr11:75332675..75332762hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141164
Supporting Variants
SamplesKWS1
Known GenesMAP6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992672
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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