A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011041



Internal ID19100258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202428224..202444759hg38UCSC Ensembl
Innerchr2:203292947..203309482hg19UCSC Ensembl
Innerchr2:203001192..203017727hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3816536
hg1916536
hg1816536
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4150n100
Supporting Variantsnssv3584003
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)nsv1011041
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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