A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3972649



Internal ID18889015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19522065..19522134hg38UCSC Ensembl
Outerchr19:19632874..19632943hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1134766
Supporting Variants
SamplesKWS2
Known GenesNDUFA13
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3972649
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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