A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987952



Internal ID19218799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:45588714..45590320hg38UCSC Ensembl
Outerchr1:46054386..46055992hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381607
hg191607
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133131
Supporting Variants
SamplesKWS1
Known GenesNASP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987952
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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