A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132627



Internal ID18908753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:57923622..57929322hg38UCSC Ensembl
Outerchr6:58249900..58255600hg19UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg385701
hg195701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987413
SamplesKWS1
Known GenesGUSBP4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132627
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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