A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011800



Internal ID18754334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:187436597..187475669hg38UCSC Ensembl
Innerchr2:188301324..188340396hg19UCSC Ensembl
Innerchr2:188009569..188048641hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3839073
hg1939073
hg1839073
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583294
Samples
Known GenesCALCRL, TFPI
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011800
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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