A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118446



Internal ID19268198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:144971906..145009301hg38UCSC Ensembl
Outerchr1:143999800..144037200hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3837396
hg1937401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3958952
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118446
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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