A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125182



Internal ID18914898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2939615..2939685hg38UCSC Ensembl
Outerchr12:3048781..3048851hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977987
SamplesKWS2
Known GenesTULP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125182
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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