A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141153



Internal ID18923091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:148534676..148552297hg38UCSC Ensembl
Outerchr1:148259800..148277700hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3817622
hg1917901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3992661
SamplesKWS2
Known GenesLOC101929780, NBPF14, NBPF8, NBPF9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141153
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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