A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951592



Internal ID16953779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2564862..2613961hg38UCSC Ensembl
Outerchr1:2496301..2545400hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3849100
hg1949100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997281
SamplesBILGI_BIOE
Known GenesFAM213B, MMEL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951592
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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