A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999782



Internal ID16946048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19612592..19663391hg38UCSC Ensembl
Outerchr19:19723401..19774200hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3850800
hg1950800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952427
Supporting Variants
SamplesBILGI_BIOE
Known GenesATP13A1, GMIP, LPAR2, PBX4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999782
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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