A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124946



Internal ID19251438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:160620668..160633768hg38UCSC Ensembl
Outerchr6:161041700..161054800hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3813101
hg1913101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977752
SamplesKWS2
Known GenesLPA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124946
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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