A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535629



Internal ID15165375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:102061304..102074267hg38UCSC Ensembl
Innerchr2:102677765..102690727hg19UCSC Ensembl
Innerchr2:102044197..102057159hg18UCSC Ensembl
Innerchr2:102136283..102149245hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3812964
hg1912963
hg1812963
hg1712963
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458718
Supporting Variants
SamplesNINDS_196
Known Genes
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)nssv535629
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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