A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3991122



Internal ID18897761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:39190969..39191019hg38UCSC Ensembl
Outerchr17:37347222..37347272hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1138536
Supporting Variants
SamplesKWS2
Known GenesCACNB1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3991122
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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