A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994547



Internal ID18859741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:31858881..31859481hg38UCSC Ensembl
Outerchr17:30185900..30186500hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143851
Supporting Variants
SamplesKWS1
Known GenesCOPRS
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994547
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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