A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003004



Internal ID19092221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127537744..127716752hg38UCSC Ensembl
Innerchr2:128295320..128474326hg19UCSC Ensembl
Innerchr2:128011790..128190796hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38179009
hg19179007
hg18179007
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4069n100
Supporting Variantsnssv3580771, nssv3580772
Samples
Known GenesGPR17, LIMS2, MYO7B, SFT2D3, WDR33
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003004
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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