A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997119



Internal ID16943385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31655500..31800799hg38UCSC Ensembl
Outerchr1:32121101..32266400hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38145300
hg19145300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950385
Supporting Variants
SamplesBILGI_BIOE
Known GenesBAI2, COL16A1, MIR4254, SPOCD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997119
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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