A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951382



Internal ID16953569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:99416178..99434777hg38UCSC Ensembl
Outerchr7:99013801..99032400hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3818600
hg1918600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998548
SamplesBILGI_BIOE
Known GenesATP5J2-PTCD1, BUD31, PTCD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951382
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer