A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134745



Internal ID18902479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3940428..3940522hg38UCSC Ensembl
Outerchr19:3940426..3940520hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972626
SamplesKWS2
Known GenesNMRK2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134745
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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