A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv957392



Internal ID16959579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95946603..95949179hg38UCSC Ensembl
Outerchr12:96340381..96342957hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382577
hg192577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3002659
SamplesBILGI_BIOE
Known GenesAMDHD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv957392
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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