A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv626334



Internal ID15503181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:62156868..62158872hg38UCSC Ensembl
Outerchr1:62622540..62624544hg19UCSC Ensembl
Outerchr1:62395128..62397132hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg382005
hg192005
hg182005
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511694
Supporting Variants
Samples1
Known GenesINADL
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv626334
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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