A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3968751



Internal ID19236254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8693577..8693633hg38UCSC Ensembl
Outerchr12:8846173..8846229hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1113458
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3968751
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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