A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997270



Internal ID16943536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2266062..2564661hg38UCSC Ensembl
Outerchr1:2197501..2496100hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38298600
hg19298600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951557
Supporting Variants
SamplesBILGI_BIOE
Known GenesHES5, LOC100129534, LOC100133445, LOC115110, MORN1, PANK4, PEX10, PLCH2, RER1, SKI, TNFRSF14
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997270
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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