A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463983



Internal ID15177362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:99434687..99473946hg38UCSC Ensembl
Innerchr6:99882563..99921822hg19UCSC Ensembl
Innerchr6:99989284..100028543hg18UCSC Ensembl
Innerchr6:99989284..100028543hg17UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg3839260
hg1939260
hg1839260
hg1739260
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539993
Samples1780862356_A
Known GenesUSP45
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)nsv463983
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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