A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv887996



Internal ID6295007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44073574..44194482hg19UCSC Ensembl
Outerchr7:44045689..44203006hg19UCSC Ensembl
Innerchr7:44040099..44161007hg18UCSC Ensembl
Outerchr7:44012214..44169531hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv1546634, nssv1530578
SamplesMS10311, MS17208
Known GenesAEBP1, DBNL, FLJ35390, GCK, MIR4649, MYL7, PGAM2, POLD2, POLM, POLR2J4, RASA4P, SPDYE1
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv887996
Frequency
Sample Size6533
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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