A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007291



Internal ID19096510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202428224..202447466hg38UCSC Ensembl
Innerchr2:203292947..203312189hg19UCSC Ensembl
Innerchr2:203001192..203020434hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3819243
hg1919243
hg1819243
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4150n100
Supporting Variantsnssv3584018, nssv3584013, nssv3584008, nssv3584023, nssv3584024, nssv3584015, nssv3584020, nssv3584010, nssv3584026, nssv3584017, nssv3584011, nssv3584012, nssv3584019, nssv3584021, nssv3584025, nssv3584009, nssv3584022, nssv3584016, nssv3584014
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)nsv1007291
Frequency
Sample Size11257
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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