A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004537



Internal ID18747068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:208372850..208382996hg38UCSC Ensembl
Innerchr2:209237575..209247721hg19UCSC Ensembl
Innerchr2:208945820..208955966hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3810147
hg1910147
hg1810147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3585601
Samples
Known GenesPTH2R
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004537
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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