A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462932



Internal ID15522997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:43098175..43146964hg38UCSC Ensembl
Innerchr6:43065913..43114702hg19UCSC Ensembl
Innerchr6:43173891..43222680hg18UCSC Ensembl
Innerchr6:43173891..43222680hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3848790
hg1948790
hg1848790
hg1748790
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538988
SamplesHGDP00696
Known GenesPTK7
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)nsv462932
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