A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462919



Internal ID15522984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:39082608..39095214hg38UCSC Ensembl
Innerchr6:39050384..39062990hg19UCSC Ensembl
Innerchr6:39158362..39170968hg18UCSC Ensembl
Innerchr6:39158362..39170968hg17UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3812607
hg1912607
hg1812607
hg1712607
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538977
Samples1780854065_A
Known GenesGLP1R
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)nsv462919
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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