A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3982984



Internal ID19212862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:106927118..106927182hg38UCSC Ensembl
Outerchr12:107320896..107320960hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1119980
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3982984
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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