A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462084



Internal ID15522149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:76678496..76711504hg38UCSC Ensembl
Innerchr1:77144181..77177189hg19UCSC Ensembl
Innerchr1:76916769..76949777hg18UCSC Ensembl
Innerchr1:76856202..76889210hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3833009
hg1933009
hg1833009
hg1733009
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538338
SamplesNINDS_130
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)nsv462084
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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