A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528969



Internal ID15109576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75074053..76920728hg38UCSC Ensembl
Innerchr7:74489889..76550045hg19UCSC Ensembl
Innerchr7:74127825..76387981hg18UCSC Ensembl
Innerchr7:73934540..76194696hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381846676
hg192060157
hg182260157
hg172260157
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705668
Samples
Known GenesCCL24, CCL26, DTX2, FDPSP2, GATSL1, GATSL2, GTF2IP1, GTF2IRD2, GTF2IRD2B, HIP1, HSPB1, LOC100093631, LOC100133091, LOC541473, MDH2, MIR4651, NCF1C, NSUN5P1, PMS2P3, PMS2P5, POM121C, POMZP3, POR, RHBDD2, SNORA14A, SPDYE5, SPDYE8P, SRCRB4D, SRRM3, STAG3L1, STYXL1, TMEM120A, TRIM73, TRIM74, UPK3B, YWHAG, ZP3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528969
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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