A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538617



Internal ID15162737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:88799565..88894837hg38UCSC Ensembl
Innerchr1:89265248..89360520hg19UCSC Ensembl
Innerchr1:89037836..89133108hg18UCSC Ensembl
Innerchr1:88977269..89072541hg17UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3895273
hg1995273
hg1895273
hg1795273
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462461
Supporting Variants
SamplesHGDP01003
Known GenesGTF2B, PKN2
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)nssv538617
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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