A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461984



Internal ID15522049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:74339149..74408787hg38UCSC Ensembl
Innerchr1:74804833..74874471hg19UCSC Ensembl
Innerchr1:74577421..74647059hg18UCSC Ensembl
Innerchr1:74516854..74586492hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3869639
hg1969639
hg1869639
hg1769639
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538287
SamplesNINDS_142
Known GenesFPGT-TNNI3K, TNNI3K
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)nsv461984
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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