A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534944



Internal ID15165430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:48548157..48616129hg38UCSC Ensembl
Innerchr17:46625519..46693491hg19UCSC Ensembl
Innerchr17:43980518..44048490hg18UCSC Ensembl
Innerchr17:43980518..44048490hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3867973
hg1967973
hg1867973
hg1767973
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457824
Supporting Variants
SamplesNINDS_201
Known GenesHOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB-AS1, HOXB-AS3, MIR10A
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)nssv534944
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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