A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993639



Internal ID19239097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:19528631..19528708hg38UCSC Ensembl
Outerchr12:19681565..19681642hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142135
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993639
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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