Albinism Family Array CGH Data (ID 785601) - BioProject

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Accession: PRJNA785601 ID: 785601

Albinism Family Array CGH Data (human)

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This project is a component of the Homo sapiens Phenotype or Genotype

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88958 additional projects are related by organism.

1 additional project is a component of the Homo sapiens Phenotype or Genotype.

The study was carried out to identify copy number variations using array-CGH in family having three children affected with albinism (OCA1B) and the males were affected with ID. More...

Accession	PRJNA785601; GEO: GSE190026
Data Type	Variation
Scope	Multiisolate
Organism	Homo sapiens[Taxonomy ID: 9606] Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo; Homo sapiens
Publications	Dhangar S et al., "Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations.", BMC Med Genomics, 2022 Jan 3;15(1):2
Submission	Registration date: 2-Dec-2021 Cytogenetics, Cytogenetics, ICMR - National Institute of Immunohaematology
Relevance	Medical

Project Data:

Resource Name	Number of Links
Publications
PubMed	1
PMC	1
Other datasets
GEO DataSets	1

GEO Data Details

Parameter	Value
Data volume, Spots	220092
Data volume, Processed Mbytes	6
Data volume, Supplementary Mbytes	7

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Albinism Family Array CGH Data (human)

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