A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460557



Internal ID15173936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:56560707..56627292hg38UCSC Ensembl
Innerchr3:56594735..56661320hg19UCSC Ensembl
Innerchr3:56569775..56636360hg18UCSC Ensembl
Innerchr3:56569775..56636360hg17UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3866586
hg1966586
hg1866586
hg1766586
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537105
Samples1780854231_A
Known GenesCCDC66, FAM208A
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)nsv460557
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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