A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034528



Internal ID18777062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:145373994..147324855hg38UCSC Ensembl
Innerchr7:145071087..147021947hg19UCSC Ensembl
Innerchr7:144702020..146652880hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381950862
hg191950861
hg181950861
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3674190
Samples
Known GenesCNTNAP2, MIR548AQ, MIR548AR, MIR548I4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034528
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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