A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv821643



Internal ID16064018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69272838..71076658hg38UCSC Ensembl
Innerchr5:68568665..70372485hg19UCSC Ensembl
Innerchr5:68604421..70408241hg18UCSC Ensembl
Innerchr5:68604421..70408241hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381803821
hg191803821
hg181803821
hg171803821
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1421398, nssv1421402, nssv1421397, nssv1421401, nssv1421390, nssv1421392, nssv1421400, nssv1421395, nssv1421393, nssv1421394, nssv1421391, nssv1421399
Samples
Known GenesAK6, CCDC125, CDK7, GTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, LOC647859, MARVELD2, NAIP, OCLN, RAD17, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2, TAF9
MethodROMA
AnalysisMeasured intensities without background subtraction were used to calculate ratios. Data were normalized using an intensity-based lowess curve fitting algorithm similar to that described in Yang et al. Log ratio values obtained from color reversal experiments were averaged and displayed as presented in the figures. Copy number polymorphisms (CNPs) were identified based on probe ratios using a Hidden Markov Model.
PlatformA custom Nimblegen photoprint 85,000 probe ROMA oligo array platform was used.
Comments
ReferenceSebat_et_al_2004
Pubmed ID15273396
Accession Number(s)nsv821643
Frequency
Sample Size31
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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