A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457749



Internal ID15171128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46040903..46215654hg38UCSC Ensembl
Innerchr17:44118269..44293020hg19UCSC Ensembl
Innerchr17:41474116..41648797hg18UCSC Ensembl
Innerchr17:41474116..41648797hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38174752
hg19174752
hg18174682
hg17174682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv366n27
Supporting Variantsnssv534872
SamplesNINDS_66
Known GenesKANSL1, KANSL1-AS1
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)nsv457749
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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