A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3990681



Internal ID18883485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51294672..51294737hg38UCSC Ensembl
Outerchr12:51688456..51688521hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1138133
Supporting Variants
SamplesKWS2
Known GenesBIN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3990681
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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