A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1151653



Internal ID19200895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:78579576..78584377hg38UCSC Ensembl
Outerchr5:77875399..77880200hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg384802
hg194802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4003076
SamplesKWB1
Known GenesLHFPL2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1151653
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer