A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950793



Internal ID16952980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:2592167..2703366hg38UCSC Ensembl
Outerchr7:2631801..2743000hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38111200
hg19111200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997597
SamplesBILGI_BIOE
Known GenesAMZ1, IQCE, TTYH3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950793
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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