A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3968366



Internal ID18891304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:56614566..56623055hg38UCSC Ensembl
Outerchr12:57008350..57016839hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg388490
hg198490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1121717
Supporting Variants
SamplesKWS2
Known GenesBAZ2A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3968366
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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