A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541729



Internal ID15502318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:4730743..4758022hg38UCSC Ensembl
Innerchr9:4730743..4758022hg19UCSC Ensembl
Innerchr9:4720743..4748022hg18UCSC Ensembl
Innerchr9:4720743..4748022hg17UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg3827280
hg1927280
hg1827280
hg1727280
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466096
Supporting Variants
Samples1780854296_A
Known GenesAK3
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)nssv541729
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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