A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140125



Internal ID18909869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132239341..132239411hg38UCSC Ensembl
Outerchr12:132810192..132810262hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv910n106
Supporting Variantsnssv3978837
SamplesKWS2
Known GenesGALNT9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140125
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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