A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123146



Internal ID18921009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:76935843..76935907hg38UCSC Ensembl
Outerchr17:74931925..74931989hg19UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971153, nssv3972129
SamplesKWS1, KWS2
Known GenesMGAT5B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123146
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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