A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3968503



Internal ID18895197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49019017..49021417hg38UCSC Ensembl
Outerchr12:49412800..49415200hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382401
hg192401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1121849
Supporting Variants
SamplesKWS2
Known GenesKMT2D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3968503
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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