A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110711



Internal ID18934072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:7077352..7077450hg38UCSC Ensembl
Outerchr17:6980671..6980769hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961119
SamplesKWS1
Known GenesCLEC10A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110711
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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