A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001627



Internal ID17294579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236141701..236143100hg38UCSC Ensembl
Outerchr1:236305001..236306400hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953998
Supporting Variants
SamplesBILGI_BIOE
Known GenesGPR137B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001627
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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