A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3980683



Internal ID19209748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:234397154..234397954hg38UCSC Ensembl
Outerchr1:234532900..234533700hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143479
Supporting Variants
SamplesKWS1
Known GenesTARBP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3980683
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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