A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542568



Internal ID15510555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:54485705..54513792hg38UCSC Ensembl
Innerchr10:56245465..56273552hg19UCSC Ensembl
Innerchr10:55915471..55943558hg18UCSC Ensembl
Innerchr10:55915471..55943558hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3828088
hg1928088
hg1828088
hg1728088
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467224
Supporting Variants
SamplesHGDP01263
Known GenesPCDH15
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)nssv542568
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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