A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv972230



Internal ID18607446
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2759742, nssv2759585, nssv2758502
SamplesHGDP01284, HGDP00665, HGDP00521
Known GenesADAM5
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv972230
Frequency
Sample Size10
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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