A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000312



Internal ID17293264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:228390300..228417299hg38UCSC Ensembl
Outerchr1:228578001..228605000hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3827000
hg1927000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952141
Supporting Variants
SamplesBILGI_BIOE
Known GenesMIR6742, TRIM11, TRIM17
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000312
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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