A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461950



Internal ID15175329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6421856..6508327hg38UCSC Ensembl
Innerchr1:6481916..6568387hg19UCSC Ensembl
Innerchr1:6404503..6490974hg18UCSC Ensembl
Innerchr1:6416182..6502653hg17UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3886472
hg1986472
hg1886472
hg1786472
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2n27
Supporting Variantsnssv538257
SamplesHGDP00814
Known GenesESPN, MIR4252, PLEKHG5, TNFRSF25
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)nsv461950
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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