A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024743



Internal ID18767274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:127858642..128029951hg38UCSC Ensembl
Innerchr7:127498695..127670004hg19UCSC Ensembl
Innerchr7:127285931..127457240hg18UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38171310
hg19171310
hg18171310
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3662181
Samples
Known GenesLRRC4, SND1, SND1-IT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024743
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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