A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442178



Internal ID15500897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:45577427..45580783hg38UCSC Ensembl
Innerchr10:46072875..46076231hg19UCSC Ensembl
Innerchr10:45392881..45396237hg18UCSC Ensembl
Innerchr10:45392881..45396237hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg383357
hg193357
hg183357
hg173357
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1659016, nssv1659030, nssv1659014, nssv1659020, nssv1659028, nssv1659018, nssv1659029, nssv1659026, nssv1659024, nssv1659015, nssv1659021, nssv1659022, nssv1659025, nssv1659023, nssv1659027, nssv1659017, nssv1659019
SamplesNA12236, NA18633, NA12155, NA18563, NA10846, NA18990, NA18973, NA10831, NA18981, NA12145, NA12144, NA18570, NA18542, NA18952, NA18971, NA18965, NA11832
Known GenesMARCH8
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)nsv442178
Frequency
Sample Size270
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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