A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994401



Internal ID19220946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:116881095..116881595hg38UCSC Ensembl
Outerchr12:117318900..117319400hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143710
Supporting Variants
SamplesKWS1
Known GenesHRK
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994401
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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