A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953605



Internal ID17302479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50659244..50662943hg38UCSC Ensembl
Outerchr19:51162501..51166200hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999871
SamplesBILGI_BIOE
Known GenesC19orf81, SHANK1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953605
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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