A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1150076



Internal ID18854995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:16397074..16401575hg38UCSC Ensembl
Outerchr7:16436699..16441200hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg384502
hg194502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998862
SamplesKWB1
Known GenesISPD
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1150076
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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