A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009608



Internal ID19098826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:148139779..148376149hg38UCSC Ensembl
Innerchr2:148897348..149133718hg19UCSC Ensembl
Innerchr2:148613818..148850188hg18UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38236371
hg19236371
hg18236371
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582953
Samples
Known GenesMBD5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009608
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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