A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954759



Internal ID17303632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:10200515..10200646hg38UCSC Ensembl
Outerchr2:10340641..10340772hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003909
SamplesBILGI_BIOE
Known GenesC2orf48
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954759
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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