A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3968750



Internal ID18894962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8608383..8608452hg38UCSC Ensembl
Outerchr12:8760979..8761048hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1113457
Supporting Variants
SamplesKWS2
Known GenesAICDA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3968750
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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