A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116250



Internal ID18910073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:10782278..10782371hg38UCSC Ensembl
Outerchr18:10782276..10782369hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1551n106
Supporting Variantsnssv3954602
SamplesKWS1
Known GenesPIEZO2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116250
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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