A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111148



Internal ID18910153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:61716776..61716832hg38UCSC Ensembl
Outerchr17:59794137..59794193hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962384
SamplesKWS1
Known GenesBRIP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111148
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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