A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461162



Internal ID15174541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2792593..2845072hg38UCSC Ensembl
Innerchr4:2794320..2846799hg19UCSC Ensembl
Innerchr4:2764118..2816597hg18UCSC Ensembl
Innerchr4:2831525..2883805hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3852480
hg1952480
hg1852480
hg1752281
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537593
SamplesHGDP00607
Known GenesADD1, SH3BP2
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)nsv461162
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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