A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142048



Internal ID18918921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3176062..3176285hg38UCSC Ensembl
Outerchr1:3092626..3092849hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978766, nssv3960946
SamplesKWS1, KWS2
Known GenesPRDM16
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142048
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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