A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428171



Internal ID18277935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72730822..73274886hg38UCSC Ensembl
Innerchr7:72195790..72688930hg19UCSC Ensembl
Innerchr7:71833726..72326866hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38544065
hg19493141
hg18493141
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451058, nssv451057
SamplesNA19147, HGDP00449
Known GenesGTF2IP1, LOC100093631, LOC100101148, LOC541473, NCF1B, NSUN5P2, PMS2L2, PMS2P5, POM121, SBDSP1, SPDYE7P, SPDYE8P, STAG3L1, STAG3L3, TRIM73, TRIM74, TYW1B
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry_et_al_2008b
Pubmed ID18775914
Accession Number(s)nsv428171
Frequency
Sample Size62
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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