A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694046



Internal ID15084012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72631705..73308984hg38UCSC Ensembl
Innerchr7:72096690..72722981hg19UCSC Ensembl
Innerchr7:71734626..72360917hg18UCSC Ensembl
Innerchr7:71541341..72167632hg17UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38677280
hg19626292
hg18626292
hg17626292
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520573
Supporting Variants
Samples
Known GenesGTF2IP1, LOC100093631, LOC100101148, LOC541473, MIR4650-1, MIR4650-2, NCF1B, NSUN5, NSUN5P2, PMS2L2, PMS2P5, POM121, SBDSP1, SPDYE7P, SPDYE8P, STAG3L1, STAG3L3, TRIM73, TRIM74, TYW1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694046
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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