A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv910n106



Internal ID20160267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132239340..132239432hg38UCSC Ensembl
chr12:132810191..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 Variants
Supporting Variantsnsv1110694, nsv1140125
SamplesKWS1, KWS2
Known GenesGALNT9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv910n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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