A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147693



Internal ID19195880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168309367..168309446hg38UCSC Ensembl
Outerchr6:168710047..168710126hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996483
SamplesKWB1
Known GenesDACT2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147693
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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