A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110214



Internal ID19269560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:97175022..97177822hg38UCSC Ensembl
Outerchr12:97568800..97571600hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382801
hg192801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959483
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110214
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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