A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3965178



Internal ID18860684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49377265..49379726hg38UCSC Ensembl
Outerchr13:49951401..49953862hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382462
hg192462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1130328
Supporting Variants
SamplesKWS1
Known GenesCAB39L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3965178
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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