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GRCh38/hg38 20q11.21(chr20:31254983-31660401)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 30, 2011
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:
RCV000141034.3

Allele description [Variation Report for GRCh38/hg38 20q11.21(chr20:31254983-31660401)x3]

GRCh38/hg38 20q11.21(chr20:31254983-31660401)x3

Genes:
  • LOC130065605:ATAC-STARR-seq lymphoblastoid active region 17686 [Gene]
  • LOC130065603:ATAC-STARR-seq lymphoblastoid silent region 12756 [Gene]
  • LOC130065604:ATAC-STARR-seq lymphoblastoid silent region 12757 [Gene]
  • LOC130065606:ATAC-STARR-seq lymphoblastoid silent region 12759 [Gene]
  • LOC126863010:BRD4-independent group 4 enhancer GRCh37_chr20:30134937-30136136 [Gene]
  • LOC116286204:CRISPRi-validated cis-regulatory element chr20.845 [Gene]
  • LOC116286205:CRISPRi-validated cis-regulatory element chr20.846 [Gene]
  • HM13-AS1:HM13 antisense RNA 1 [Gene - HGNC]
  • MCTS2:MCTS family member 2 [Gene - OMIM - HGNC]
  • LOC129391163:MPRA-validated peak4184 silencer [Gene]
  • LOC129391164:MPRA-validated peak4185 silencer [Gene]
  • LOC126863011:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:30148388-30149587 [Gene]
  • REM1:RRAD and GEM like GTPase 1 [Gene - OMIM - HGNC]
  • LOC125387254:Sharpr-MPRA regulatory region 11771 [Gene]
  • LOC125387253:Sharpr-MPRA regulatory region 14532 [Gene]
  • LOC125387249:Sharpr-MPRA regulatory region 9809 [Gene]
  • LOC110120877:VISTA enhancer hs480 [Gene]
  • COX4I2:cytochrome c oxidase subunit 4I2 [Gene - OMIM - HGNC]
  • DEFB115:defensin beta 115 [Gene - HGNC]
  • DEFB116:defensin beta 116 [Gene - HGNC]
  • DEFB118:defensin beta 118 [Gene - OMIM - HGNC]
  • DEFB119:defensin beta 119 [Gene - OMIM - HGNC]
  • DEFB121:defensin beta 121 [Gene - OMIM - HGNC]
  • DEFB123:defensin beta 123 [Gene - OMIM - HGNC]
  • DEFB124:defensin beta 124 [Gene - HGNC]
  • HM13:histocompatibility minor 13 [Gene - OMIM - HGNC]
  • ID1:inhibitor of DNA binding 1 [Gene - OMIM - HGNC]
  • LINC00028:long intergenic non-protein coding RNA 28 [Gene - HGNC]
  • MIR3193:microRNA 3193 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
20q11.21
Genomic location:
Preferred name:
GRCh38/hg38 20q11.21(chr20:31254983-31660401)x3
HGVS:
  • NC_000020.11:g.(?_31254983)_(31660401_?)dup
  • NC_000020.10:g.(?_29842786)_(30248204_?)dup
Links:
dbVar: nssv1608590; dbVar: nsv932415
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000181898GeneDx
no assertion criteria provided
Uncertain significance
(Apr 30, 2011) 		not providedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000181898.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023