A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128594



Internal ID19255556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:53092228..53101928hg38UCSC Ensembl
Outerchr1:53557900..53567600hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg389701
hg199701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960505
SamplesKWS1
Known GenesSLC1A7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128594
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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