A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2758502



Internal ID17874147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39368872..39445829hg38UCSC Ensembl
Innerchr8:39226391..39303348hg19UCSC Ensembl
Innerchr8:39345548..39422505hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3876958
hg1976958
hg1876958
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972230
Supporting Variants
SamplesHGDP01284
Known GenesADAM5
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2758502
Frequency
Sample Size10
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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