A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954437



Internal ID16956624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:178523774..178531073hg38UCSC Ensembl
Outerchr2:179388501..179395800hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg387300
hg197300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003082
SamplesBILGI_BIOE
Known GenesMIR548N, TTN, TTN-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954437
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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