A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005551



Internal ID19094768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:120991683..121084979hg38UCSC Ensembl
Innerchr3:120710530..120803826hg19UCSC Ensembl
Innerchr3:122193220..122286516hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg3893297
hg1993297
hg1893297
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3604525
Samples
Known GenesSTXBP5L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005551
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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