A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv958423



Internal ID16960611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:22163157..22163222hg38UCSC Ensembl
Outerchr7:22202775..22202840hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3004788
SamplesBILGI_BIOE
Known GenesRAPGEF5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv958423
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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