A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053237



Internal ID19142456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:57138666..57202423hg38UCSC Ensembl
Innerchr13:57712800..57776557hg19UCSC Ensembl
Innerchr13:56610801..56674558hg18UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3863758
hg1963758
hg1863758
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1664n100
Supporting Variantsnssv3523980, nssv3523940, nssv3523939, nssv3523949, nssv3523946, nssv3523986, nssv3523944, nssv3523964, nssv3523974, nssv3523978, nssv3523968, nssv3523982, nssv3523990, nssv3523948, nssv3523985, nssv3523963, nssv3523976, nssv3523960, nssv3523967, nssv3523965, nssv3523962, nssv3523972, nssv3523981, nssv3523952, nssv3523969, nssv3523966, nssv3523937, nssv3523975, nssv3523947, nssv3523961, nssv3523984, nssv3523938, nssv3523988, nssv3523989, nssv3523936, nssv3523971, nssv3523945, nssv3523943, nssv3523942, nssv3523953, nssv3523950, nssv3523956, nssv3523987, nssv3523992, nssv3523983, nssv3523979, nssv3523991, nssv3523951, nssv3523970, nssv3523958, nssv3523977, nssv3523959, nssv3523955, nssv3523954, nssv3523973, nssv3523941, nssv3523957
Samples
Known GenesPRR20A, PRR20B, PRR20C, PRR20D, PRR20E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053237
Frequency
Sample Size11257
Observed Gain31
Observed Loss26
Observed Complex0
Frequencyn/a


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