A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128672



Internal ID19266563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:117792895..117794795hg38UCSC Ensembl
Outerchr12:118230700..118232600hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg381901
hg191901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv879n106
Supporting Variantsnssv3960585
SamplesKWS1
Known GenesKSR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128672
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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