A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542089



Internal ID15156388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:127770709..127866860hg38UCSC Ensembl
Innerchr9:130532988..130629139hg19UCSC Ensembl
Innerchr9:129572809..129668960hg18UCSC Ensembl
Innerchr9:127612542..127708693hg17UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3896152
hg1996152
hg1896152
hg1796152
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466575
Supporting Variants
Samples1780862075_A
Known GenesAK1, CDK9, ENG, FPGS, MIR2861, MIR3960, SH2D3C
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)nssv542089
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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