A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460074



Internal ID15520139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:212249920..212286505hg38UCSC Ensembl
Innerchr2:213114645..213151230hg19UCSC Ensembl
Innerchr2:212822890..212859475hg18UCSC Ensembl
Innerchr2:212940151..212976736hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3836586
hg1936586
hg1836586
hg1736586
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536699
SamplesHGDP01238
Known GenesERBB4
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)nsv460074
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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