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dbVar

Database of genomic structural variation

nstd72 (Morak et al. 2012)

Organism:: Human
Study Type:: Case-Set
Submitter:: Maria Morak
Description:: We have discovered two new intrachromosomal breakpoints in the region upstream of CRLF2 exon1, which are involved in P2RY8-CRLF2 rearrangements in childhood ALL. This breakpoints are approximately 0.1 kb and 2.1 kb distal to CRLF2 exon1. See Variant Summary counts for nstd72 in dbVar Variant Summary.
Publication(s):: Morak et al. 2012

Links

Source: NCBI

Detailed Information: Download 5 Variant Regions, Download 5 Variant Calls, Download Both, FTP

Variant Summary
Samplesets
Experimental Details
Validations

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Submitted: GRCh37 (hg19)

Variant Summary for:

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000023.11	ChrX	5	5	Remapped	NC_000023.11

Remapping summary:

			Variant Region remap status						Variant Call remap status
Sequence ID	Chr	Variant Regions on source	Perfect	Good	Pass	Fail	Mult	Variant Calls on source	Perfect	Good	Pass	Fail	Mult
NC_000023.10	ChrX	5	5	0	0	0	0	5	5	0	0	0	0

Samplesets

Number of Samplesets: 1

Name:: new P2RY8-CRLF2 breakpoints
Size:: 5
Organisms:: Homo sapiens
Sampleset Phenotype(s):: Childhood B Acute Lymphoblastic Leukemia

Experimental Details

Experiment ID	Type	Method	Analysis	Number of Variant Calls
1	Discovery	Sequencing	Sequence alignment	5

Validations

No validation data were submitted for this study.

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