A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129769



Internal ID19287207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:160535007..160535209hg38UCSC Ensembl
Outerchr6:160956039..160956241hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3964860
SamplesKWS1
Known GenesLPA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129769
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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