A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148992



Internal ID19199087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:7967501..7970502hg38UCSC Ensembl
Outerchr18:7967499..7970500hg19UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg383002
hg193002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997777
SamplesKWB1
Known GenesPTPRM
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148992
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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