A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3985591



Internal ID18868087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:74785207..74785300hg38UCSC Ensembl
Outerchr11:74496252..74496345hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1127209
Supporting Variants
SamplesKWS1
Known GenesRNF169
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3985591
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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