A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959871



Internal ID18877305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:46612290..46612352hg38UCSC Ensembl
Outerchr12:47006073..47006135hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1119428
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959871
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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