A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987646



Internal ID18864461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:88143828..88143893hg38UCSC Ensembl
Outerchr12:88537605..88537670hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132853
Supporting Variants
SamplesKWS1
Known GenesTMTC3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987646
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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