A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967747



Internal ID19237318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49344717..49345517hg38UCSC Ensembl
Outerchr12:49738500..49739300hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1131040
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967747
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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