A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520573



Internal ID15101180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72578056..73336343hg38UCSC Ensembl
Innerchr7:72043041..72750345hg19UCSC Ensembl
Innerchr7:71680977..72388281hg18UCSC Ensembl
Innerchr7:71487692..72194996hg17UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38758288
hg19707305
hg18707305
hg17707305
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv672719, nssv694046, nssv696688, nssv675188, nssv701501
Samples
Known GenesFKBP6, GTF2IP1, LOC100093631, LOC100101148, LOC541473, MIR4650-1, MIR4650-2, NCF1B, NSUN5, NSUN5P2, PMS2L2, PMS2P5, POM121, SBDSP1, SPDYE7P, SPDYE8P, STAG3L1, STAG3L3, TRIM50, TRIM73, TRIM74, TYW1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520573
Frequency
Sample Size2026
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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