A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152954



Internal ID19201339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:48152127..48155928hg38UCSC Ensembl
Outerchr1:48617799..48621600hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg383802
hg193802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997988
SamplesKWB1
Known GenesSKINTL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152954
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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