A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541910



Internal ID15506127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:188023862..188048814hg38UCSC Ensembl
Innerchr1:187992993..188017945hg19UCSC Ensembl
Innerchr1:186259616..186284568hg18UCSC Ensembl
Innerchr1:184724650..184749602hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3824953
hg1924953
hg1824953
hg1724953
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466339
Supporting Variants
SamplesHGDP00397
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)nssv541910
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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