A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002930



Internal ID19189596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:77193444..77193526hg38UCSC Ensembl
Outerchr11:76904489..76904571hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151506
Supporting Variants
SamplesKWB1
Known GenesMYO7A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002930
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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