A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3983302



Internal ID18875207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:124311270..124311390hg38UCSC Ensembl
Outerchr12:124795816..124795936hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1145637
Supporting Variants
SamplesKWS1
Known GenesFAM101A, ZNF664-FAM101A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3983302
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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