A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1127653



Internal ID18939735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:11219281..11219353hg38UCSC Ensembl
Outerchr19:11329957..11330029hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955419
SamplesKWS1
Known GenesDOCK6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1127653
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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