A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3985674



Internal ID19213229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:58064439..58096438hg38UCSC Ensembl
Outerchr12:58458222..58490221hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3832000
hg1932000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1127274
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3985674
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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