A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994216



Internal ID19204425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:81752198..81758696hg38UCSC Ensembl
Outerchr12:82145977..82152475hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg386499
hg196499
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136038
Supporting Variants
SamplesKWS1
Known GenesPPFIA2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994216
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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