A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955988



Internal ID16958175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:82326600..82326900hg38UCSC Ensembl
Outerchr7:81955916..81956216hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000991
SamplesBILGI_BIOE
Known GenesCACNA2D1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955988
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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