A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3990060



Internal ID19238766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:123556855..123562455hg38UCSC Ensembl
Outerchr6:123878000..123883600hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg385601
hg195601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1137556
Supporting Variants
SamplesKWS2
Known GenesTRDN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3990060
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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