A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3968766



Internal ID18899219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:29710925..29710987hg38UCSC Ensembl
Outerchr12:29863858..29863920hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1113471
Supporting Variants
SamplesKWS2
Known GenesTMTC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3968766
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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