A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464610



Internal ID15177989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82176341..82201147hg38UCSC Ensembl
Innerchr7:81805657..81830463hg19UCSC Ensembl
Innerchr7:81643593..81668399hg18UCSC Ensembl
Innerchr7:81450308..81475114hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3824807
hg1924807
hg1824807
hg1724807
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540503
Samples1782681216_A
Known GenesCACNA2D1
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)nsv464610
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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