A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998548



Internal ID16944814
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 StatusS
Merged Variantsnsv951382
Supporting Variants
SamplesBILGI_BIOE
Known GenesATP5J2-PTCD1, BUD31, PTCD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998548
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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