A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999585



Internal ID16945851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:72226157..72253456hg38UCSC Ensembl
Outerchr11:71937201..71964500hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3827300
hg1927300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951038
Supporting Variants
SamplesBILGI_BIOE
Known GenesINPPL1, PHOX2A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999585
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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