A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152749



Internal ID18849983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:39510927..39519928hg38UCSC Ensembl
Outerchr1:39976599..39985600hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg389002
hg199002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999931
SamplesKWB1
Known GenesBMP8A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152749
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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