A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19027



Internal ID15830153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46385370..46583764hg38UCSC Ensembl
Outerchr10:46385114..46584138hg38UCSC Ensembl
Innerchr10:46965853..47164397hg19UCSC Ensembl
Outerchr10:46965479..47164653hg19UCSC Ensembl
Innerchr10:46385859..46584403hg18UCSC Ensembl
Outerchr10:46385485..46584659hg18UCSC Ensembl
Innerchr10:46385859..46584403hg17UCSC Ensembl
Outerchr10:46385485..46584659hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38199025
hg19199175
hg18199175
hg17199175
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA11830
Known GenesANXA8, GPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R, SYT15
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)nssv19027
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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