A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26170



Internal ID15829020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73783440..73786637hg38UCSC Ensembl
Outerchr2:73782553..73786774hg38UCSC Ensembl
Innerchr2:74010567..74013764hg19UCSC Ensembl
Outerchr2:74009680..74013901hg19UCSC Ensembl
Innerchr2:73864075..73867272hg18UCSC Ensembl
Outerchr2:73863188..73867409hg18UCSC Ensembl
Innerchr2:73922222..73925419hg17UCSC Ensembl
Outerchr2:73921335..73925556hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg384222
hg194222
hg184222
hg174222
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10024
Supporting Variants
SamplesNA10847
Known GenesC2orf78
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv26170
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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