A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461018



Internal ID15521083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:174135994..174175248hg38UCSC Ensembl
Innerchr3:173853784..173893038hg19UCSC Ensembl
Innerchr3:175336478..175375732hg18UCSC Ensembl
Innerchr3:175336486..175375740hg17UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3839255
hg1939255
hg1839255
hg1739255
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537473
SamplesNINDS_142
Known GenesNLGN1
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)nsv461018
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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