A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984545



Internal ID18866794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6766234..6766934hg38UCSC Ensembl
Outerchr12:6875400..6876100hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126309
Supporting Variants
SamplesKWS1
Known GenesPTMS
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984545
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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