A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442061



Internal ID15500780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:110788954..110792438hg38UCSC Ensembl
Innerchr7:110429010..110432494hg19UCSC Ensembl
Innerchr7:110216246..110219730hg18UCSC Ensembl
Innerchr7:110022961..110026445hg17UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg383485
hg193485
hg183485
hg173485
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658438, nssv1658437, nssv1658434, nssv1658435, nssv1658436
SamplesNA19098, NA19192, NA19130, NA18503, NA19153
Known GenesIMMP2L
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)nsv442061
Frequency
Sample Size270
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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