A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442800



Internal ID15501519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:13458666..13464572hg38UCSC Ensembl
InnerchrX:13476785..13482691hg19UCSC Ensembl
InnerchrX:13386706..13392612hg18UCSC Ensembl
InnerchrX:13236442..13242348hg17UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg385907
hg195907
hg185907
hg175907
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1655121, nssv1655128, nssv1655122, nssv1655132, nssv1655123, nssv1655129, nssv1655130, nssv1655120, nssv1655134, nssv1655126, nssv1655124, nssv1655119, nssv1655127, nssv1655125, nssv1655118, nssv1655133, nssv1655131
SamplesNA18502, NA18862, NA18507, NA19098, NA10854, NA19119, NA18860, NA19200, NA19152, NA19205, NA19154, NA19160, NA19094, NA19140, NA18913, NA19093, NA19153
Known Genes
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)nsv442800
Frequency
Sample Size270
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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