A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3990049



Internal ID19246289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:3456266..3457366hg38UCSC Ensembl
Outerchr6:3456500..3457600hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1137543
Supporting Variants
SamplesKWS2
Known GenesSLC22A23
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3990049
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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