A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538296



Internal ID15503061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:74667458..74700939hg38UCSC Ensembl
Innerchr1:75133142..75166623hg19UCSC Ensembl
Innerchr1:74905730..74939211hg18UCSC Ensembl
Innerchr1:74845163..74878644hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3833482
hg1933482
hg1833482
hg1733482
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461995
Supporting Variants
Samples1780862074_A
Known GenesC1orf173
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)nssv538296
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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