A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121717



Internal ID18915126
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 StatusM
Merged Variants
Supporting Variantsnssv3968366
SamplesKWS2
Known GenesBAZ2A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121717
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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