A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976482



Internal ID18897380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:26671967..26676367hg38UCSC Ensembl
Outerchr12:26824900..26829300hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg384401
hg194401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115428
Supporting Variants
SamplesKWS2
Known GenesITPR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976482
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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