A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950444



Internal ID16952631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:173228498..173240197hg38UCSC Ensembl
Outerchr5:172655501..172667200hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3811700
hg1911700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997877
SamplesBILGI_BIOE
Known GenesNKX2-5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950444
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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