A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025125



Internal ID19114343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:1596259..1635474hg38UCSC Ensembl
Innerchr8:1544425..1583640hg19UCSC Ensembl
Innerchr8:1531832..1571047hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3839216
hg1939216
hg1839216
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6805n100
Supporting Variantsnssv3675055, nssv3675056, nssv3675057
Samples
Known GenesDLGAP2, LOC100507435
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1025125
Frequency
Sample Size11257
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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