A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132329



Internal ID18926847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:12775101..12776001hg38UCSC Ensembl
Outerchr10:12817100..12818000hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987101
SamplesKWS1
Known GenesCAMK1D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132329
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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