A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950086



Internal ID16952273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:71064074..71095673hg38UCSC Ensembl
Outerchr5:70359901..70391500hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3831600
hg1931600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997775
SamplesBILGI_BIOE
Known GenesGTF2H2, LOC647859
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950086
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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