A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141759



Internal ID18903917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123807856..123807949hg38UCSC Ensembl
Outerchr12:124292403..124292496hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993265
SamplesKWS2
Known GenesDNAH10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141759
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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