A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124606



Internal ID19247677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:234776453..234820153hg38UCSC Ensembl
Outerchr1:234912200..234955900hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3843701
hg1943701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv301n106
Supporting Variantsnssv3976660
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124606
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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