A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3955311



Internal ID18873993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:39481631..39481724hg38UCSC Ensembl
Outerchr17:37637884..37637977hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1127568
Supporting Variants
SamplesKWS1
Known GenesCDK12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3955311
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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