A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442177



Internal ID15500896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:34228137..34233426hg38UCSC Ensembl
Innerchr10:34517065..34522354hg19UCSC Ensembl
Innerchr10:34557071..34562360hg18UCSC Ensembl
Innerchr10:34557071..34562360hg17UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg385290
hg195290
hg185290
hg175290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659011, nssv1659010, nssv1659009, nssv1659013, nssv1659012
SamplesNA19222, NA19200, NA19221, NA19093, NA19153
Known GenesPARD3
MethodSNP array
AnalysisWe used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.
Platform[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Comments
ReferenceMcCarroll_et_al_2008
Pubmed ID18776908
Accession Number(s)nsv442177
Frequency
Sample Size270
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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