A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999822



Internal ID16946088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:35747000..35868398hg38UCSC Ensembl
Outerchr19:36237901..36359300hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38121399
hg19121400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953286
Supporting Variants
SamplesBILGI_BIOE
Known GenesARHGAP33, C19orf55, HSPB6, KIRREL2, LIN37, LOC644050, NPHS1, PRODH2, PSENEN
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999822
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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