A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129267



Internal ID18927680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:39909052..39909106hg38UCSC Ensembl
Outerchr6:39876828..39876882hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962700
SamplesKWS1
Known GenesMOCS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129267
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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