A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115714



Internal ID19255277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:39455824..39460224hg38UCSC Ensembl
Outerchr6:39423600..39428000hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg384401
hg194401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977522
SamplesKWS2
Known GenesKIF6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115714
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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