A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466372



Internal ID15526437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:188443614..188486794hg38UCSC Ensembl
Innerchr1:188412745..188455925hg19UCSC Ensembl
Innerchr1:186679368..186722548hg18UCSC Ensembl
Innerchr1:185144402..185187582hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3843181
hg1943181
hg1843181
hg1743181
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541931
SamplesNINDS_272
Known Genes
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)nsv466372
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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