A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110694



Internal ID18914748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132239340..132239432hg38UCSC Ensembl
Outerchr12:132810191..132810283hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv910n106
Supporting Variantsnssv3961102
SamplesKWS1
Known GenesGALNT9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110694
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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