A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950061



Internal ID17298935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:55896373..55897372hg38UCSC Ensembl
Outerchr5:55192201..55193200hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997750
SamplesBILGI_BIOE
Known GenesIL31RA
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950061
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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