A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542122



Internal ID15508263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133685695..133705967hg38UCSC Ensembl
Innerchr9:136550817..136571089hg19UCSC Ensembl
Innerchr9:135540638..135560910hg18UCSC Ensembl
Innerchr9:133580371..133600643hg17UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3820273
hg1920273
hg1820273
hg1720273
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466620
Supporting Variants
SamplesHGDP00788
Known GenesSARDH
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)nssv542122
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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