A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001892



Internal ID16948158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:127617926..127665326hg38UCSC Ensembl
Outerchr2:128375501..128422900hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3847401
hg1947400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953155
Supporting Variants
SamplesBILGI_BIOE
Known GenesGPR17, LIMS2, MYO7B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001892
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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