A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952662



Internal ID16954849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206906356..206910155hg38UCSC Ensembl
Outerchr1:207079701..207083500hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000129
SamplesBILGI_BIOE
Known GenesFAIM3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952662
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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