A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998547



Internal ID16944813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:99375678..99405377hg38UCSC Ensembl
Outerchr7:98973301..99003000hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3829700
hg1929700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951379
Supporting Variants
SamplesBILGI_BIOE
Known GenesARPC1B, PDAP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998547
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