A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951386



Internal ID16953573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100566478..100682977hg38UCSC Ensembl
Outerchr7:100164101..100280600hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38116500
hg19116500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998552
SamplesBILGI_BIOE
Known GenesACTL6B, AGFG2, FBXO24, GIGYF1, GNB2, LRCH4, MOSPD3, PCOLCE, PCOLCE-AS1, SAP25, TFR2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951386
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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