A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115715



Internal ID19266490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:48364164..48367864hg38UCSC Ensembl
Outerchr6:48331900..48335600hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg383701
hg193701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977523
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115715
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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