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GM03470 female unaffected Chromosome deletion sample

Identifiers
BioSample: SAMN00808418; Coriell: GM03470; Coriell: NA03470
Organism
Homo sapiens (human)
cellular organisms; Eukaryota; Opisthokonta; Metazoa; Eumetazoa; Bilateria; Deuterostomia; Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae; Homininae; Homo
Attributes
cell lineGM03470
sexFemale
cell typeB-Lymphocyte
family id239
family roleproband
raceCaucasian
karyotype46;XX;del(10)(pter->p13::p12->qter).arr 10p13p12.1(13350741-25287295)x1;21q22.3(45556361-45876985)x3;46;XX;del(10)(pter>p13::p12>qter)
age1 YR
DNA-IDNA03470
collectionNIGMS Human Genetic Cell Repository
Tags
Copy number variation (cnv) refernece panel 02
Chromosome deletion
Description

Microcephaly;microphthalmia;and hypotelorism;father is GM03469A Lymphoid;both parents have normal karyotypes;gene copy numbers: D10S17-2;D10S28-2;VIM-1;and D10S34-2;same subject as GM21877 (sampled at age 6 weeks)

Submission
Coriell; 2012-03-05
Accession:
SAMN00808418
ID:
808418

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