A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952643



Internal ID16954830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:205447773..205457772hg38UCSC Ensembl
Outerchr1:205416901..205426900hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3810000
hg1910000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999240
SamplesBILGI_BIOE
Known GenesBLACAT1, MIR135B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952643
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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