A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608947



Internal ID16396356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147314455..147315362hg38UCSC Ensembl
Innerchr7:147011547..147012454hg19UCSC Ensembl
Innerchr7:146642480..146643387hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38908
hg19908
hg18908
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11705n54
Supporting Variantsnssv1098006, nssv1098049, nssv1098045, nssv1098043, nssv1098022, nssv1098012, nssv1098048, nssv1098009, nssv1097995, nssv1098029, nssv1098030, nssv1098015, nssv1097998, nssv1097987, nssv1098018, nssv1098017, nssv1097997, nssv1097988, nssv1098011, nssv1098003, nssv1098031, nssv1098051, nssv1098035, nssv1098040, nssv1098014, nssv1098019, nssv1098046, nssv1098044, nssv1098052, nssv1098025, nssv1097984, nssv1097991, nssv1098039, nssv1097981, nssv1098042, nssv1097989, nssv1098036, nssv1097996, nssv1097986, nssv1098047, nssv1098026, nssv1098027, nssv1097983, nssv1098038, nssv1097994, nssv1097990, nssv1098032, nssv1098028, nssv1097978, nssv1098034, nssv1098020, nssv1097999, nssv1098007, nssv1098024, nssv1097985, nssv1097982, nssv1098033, nssv1098050, nssv1097971, nssv1097974, nssv1097976, nssv1098008, nssv1098023, nssv1098016, nssv1097993, nssv1098021, nssv1097979, nssv1097975, nssv1098037, nssv1098041, nssv1098001, nssv1098005, nssv1097972, nssv1098000, nssv1098013, nssv1098053, nssv1097980, nssv1098010, nssv1097977, nssv1098002, nssv1098004, nssv1097992, nssv1097973
Samples
Known GenesCNTNAP2, MIR548I4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608947
Frequency
Sample Size17421
Observed Gain0
Observed Loss83
Observed Complex0
Frequencyn/a


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