A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000680



Internal ID19187497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8449537..8449812hg38UCSC Ensembl
Outerchr19:8514421..8514696hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148644
Supporting Variants
SamplesKWB1
Known GenesHNRNPM
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000680
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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