A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464692



Internal ID15178071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:114281072..114358191hg38UCSC Ensembl
Innerchr7:113921127..113998246hg19UCSC Ensembl
Innerchr7:113708363..113785482hg18UCSC Ensembl
Innerchr7:113515078..113592197hg17UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3877120
hg1977120
hg1877120
hg1777120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540565
Samples1780862574_A
Known GenesFOXP2
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv464692
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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