A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517634



Internal ID15098241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76417007..77008124hg38UCSC Ensembl
Innerchr7:76046324..76637441hg19UCSC Ensembl
Innerchr7:75884260..76475377hg18UCSC Ensembl
Innerchr7:75690975..76282092hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38591118
hg19591118
hg18591118
hg17591118
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv662611, nssv657265, nssv681051, nssv664961, nssv682427, nssv687538, nssv677380, nssv664934, nssv662177, nssv667101, nssv685408, nssv693681, nssv682189, nssv666908, nssv676024, nssv675742, nssv673357, nssv657754, nssv667271, nssv652847, nssv677682, nssv686392, nssv671795, nssv669764, nssv682715, nssv670181, nssv679102, nssv661032, nssv659643, nssv689008, nssv652609, nssv655742, nssv662334, nssv676124, nssv667986, nssv674917, nssv671882, nssv681792, nssv668944, nssv690804, nssv675482, nssv666930, nssv659622, nssv690086, nssv664191, nssv689209, nssv657568, nssv655677, nssv665211, nssv672646, nssv682007, nssv674261, nssv684894, nssv654855, nssv663179, nssv686117, nssv675133, nssv692568, nssv691198, nssv690729, nssv659859, nssv677759, nssv674487, nssv685361, nssv655535, nssv661645, nssv679684, nssv680475, nssv676165, nssv658605, nssv693201, nssv692621, nssv656221, nssv685389, nssv666884, nssv671275, nssv667164, nssv668161, nssv667696, nssv665753
Samples
Known GenesDTX2, DTX2P1-UPK3BP1-PMS2P11, FDPSP2, LOC100133091, POMZP3, UPK3B, ZP3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517634
Frequency
Sample Size2026
Observed Gain76
Observed Loss4
Observed Complex0
Frequencyn/a


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