A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1153252



Internal ID19200145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:143398628..143518031hg38UCSC Ensembl
Outerchr1:148834899..148954400hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38119404
hg19119502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001169
SamplesKWB1
Known GenesLOC101929780, LOC645166
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1153252
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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