A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3988953



Internal ID19226087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:165761972..165762252hg38UCSC Ensembl
Outerchr1:165731209..165731489hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1135392
Supporting Variants
SamplesKWS2
Known GenesTMCO1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3988953
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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