A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587697



Internal ID16375106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43551697..43553303hg38UCSC Ensembl
Innerchr21:44971578..44973184hg19UCSC Ensembl
Innerchr21:43796006..43797612hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381607
hg191607
hg181607
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv947968, nssv948009, nssv947975, nssv947993, nssv947980, nssv947998, nssv948010, nssv947969, nssv947981, nssv947972, nssv948003, nssv947983, nssv947994, nssv947982, nssv947979, nssv947999, nssv947996, nssv947988, nssv947990, nssv947997, nssv947977, nssv947986, nssv948008, nssv947985, nssv947991, nssv948013, nssv948012, nssv948004, nssv947992, nssv947970, nssv947978, nssv948007, nssv948000, nssv948011, nssv947971, nssv947987, nssv948006, nssv947976, nssv947974, nssv948001, nssv947984, nssv947973, nssv947989, nssv948002, nssv948005, nssv947995
Samples
Known GenesHSF2BP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587697
Frequency
Sample Size17421
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer