A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3990684



Internal ID18893619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:55834302..55834367hg38UCSC Ensembl
Outerchr12:56228086..56228151hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1138137
Supporting Variants
SamplesKWS2
Known GenesTMEM198B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3990684
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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