GRCh38/hg38 Yq12(chrY:57185773-57197418)x3 AND See cases

Germline classification:: Benign (1 submission)
Last evaluated:: Nov 30, 2010
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000135011.3

Allele description [Variation Report for GRCh38/hg38 Yq12(chrY:57185773-57197418)x3]

GRCh38/hg38 Yq12(chrY:57185773-57197418)x3

Gene:

IL9R:interleukin 9 receptor [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

Yq12

Genomic location:

Preferred name:

GRCh38/hg38 Yq12(chrY:57185773-57197418)x3

HGVS:

NC_000024.10:g.(?_57185773)_(57197418_?)dup
NC_000024.9:g.(?_59331924)_(59343569_?)dup

Links:

dbVar: nssv584779; dbVar: nsv498176

Observations:

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

Recent activity

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Ycf1 protein (chloroplast) [Ocotea bracteosa]
Ycf1 protein (chloroplast) [Ocotea bracteosa]
gi|2554486024|ref|YP_010887878.1|

Protein
yh13c06.s1 Soares infant brain 1NIB Homo sapiens cDNA clone IMAGE:43043 3', mRNA...
yh13c06.s1 Soares infant brain 1NIB Homo sapiens cDNA clone IMAGE:43043 3', mRNA sequence
gi|830904|gnl|dbEST|236964|gb|R6020

Nucleotide
MAG: Desulfuromonas sp. isolate BM304, whole genome shotgun sequencing project
MAG: Desulfuromonas sp. isolate BM304, whole genome shotgun sequencing project
gi|1321776327|gb|PKUA00000000.1|PKU 0000

Nucleotide
MAG: Marinilabiliales bacterium isolate BM524, whole genome shotgun sequencing p...
MAG: Marinilabiliales bacterium isolate BM524, whole genome shotgun sequencing project
gi|1321691478|gb|PKTA00000000.1|PKT 0000

Nucleotide
Planomonospora parontospora subsp. parontospora strain:NBRC 13880
Planomonospora parontospora subsp. parontospora strain:NBRC 13880
Planomonospora parontospora subsp. parontospora NBRC 13880 genome sequencing project

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000174678	GeneDx	no assertion criteria provided	Benign (Nov 30, 2010)	not provided	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000174678

GeneDx

no assertion criteria provided

Benign
(Nov 30, 2010)

not provided

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000174678.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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