A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152136



Internal ID19201212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:106774147..106774201hg38UCSC Ensembl
Outerchr12:107167925..107167979hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996743
SamplesKWB1
Known GenesLOC100287944
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152136
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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