A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460995



Internal ID15174374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:30640876..30799204hg38UCSC Ensembl
Innerchr1:31113723..31272051hg19UCSC Ensembl
Innerchr1:30886310..31044638hg18UCSC Ensembl
Innerchr1:30782816..30941144hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38158329
hg19158329
hg18158329
hg17158329
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537451
SamplesHGDP01203
Known GenesLAPTM5, MATN1, MATN1-AS1, MIR4420
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)nsv460995
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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