A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457916



Internal ID15171295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:78564295..78599049hg38UCSC Ensembl
Innerchr17:76560377..76595131hg19UCSC Ensembl
Innerchr17:74071972..74106726hg18UCSC Ensembl
Innerchr17:74071972..74106726hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3834755
hg1934755
hg1834755
hg1734755
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535010
Samples1780862586_A
Known GenesDNAH17
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)nsv457916
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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