A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129264



Internal ID18910438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179264896..179264999hg38UCSC Ensembl
Outerchr5:178691897..178692000hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962697
SamplesKWS1
Known GenesADAMTS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129264
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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