A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129131



Internal ID18914508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:83892704..83892757hg38UCSC Ensembl
Outerchr1:84358387..84358440hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961807
SamplesKWS1
Known GenesMIR548AP, TTLL7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129131
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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