A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120533



Internal ID19253917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136031499..136045908hg38UCSC Ensembl
Outerchr6:136352637..136367046hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3814410
hg1914410
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962149
SamplesKWS1
Known GenesPDE7B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120533
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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