A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120253



Internal ID18901532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1122645..1122701hg38UCSC Ensembl
Outerchr12:1231811..1231867hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv748n106
Supporting Variantsnssv3961046
SamplesKWS1
Known GenesERC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120253
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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