A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998515



Internal ID19158051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202428224..202446978hg38UCSC Ensembl
Innerchr2:203292947..203311701hg19UCSC Ensembl
Innerchr2:203001192..203019946hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3818755
hg1918755
hg1818755
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4150n100
Supporting Variantsnssv3584007
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)nsv998515
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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