A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534776



Internal ID15504258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:633174..875010hg38UCSC Ensembl
Innerchr17:536414..778250hg19UCSC Ensembl
Innerchr17:483164..725000hg18UCSC Ensembl
Innerchr17:483164..725000hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38241837
hg19241837
hg18241837
hg17241837
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457631
Supporting Variants
Samples1782681079_A
Known GenesDBIL5P, FAM57A, GEMIN4, GLOD4, NXN, RNMTL1, VPS53
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)nssv534776
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer