A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013442



Internal ID19102660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202428224..202445162hg38UCSC Ensembl
Innerchr2:203292947..203309885hg19UCSC Ensembl
Innerchr2:203001192..203018130hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3816939
hg1916939
hg1816939
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4150n100
Supporting Variantsnssv3584006, nssv3584005, nssv3584004
Samples
Known GenesBMPR2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013442
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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