A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007998



Internal ID19097217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:148108482..148238001hg38UCSC Ensembl
Innerchr2:148866051..148995570hg19UCSC Ensembl
Innerchr2:148582521..148712040hg18UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38129520
hg19129520
hg18129520
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4092n100
Supporting Variantsnssv3582951
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)nsv1007998
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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