Variant Details

Variant: nsv442937

Internal ID

15154970

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:103566616..103616762	hg38	UCSC Ensembl
Inner	chr1:104109238..104159384	hg19	UCSC Ensembl
Inner	chr1:103910761..103960907	hg18	UCSC Ensembl
Inner	chr1:103821259..103871405	hg17	UCSC Ensembl

Cytoband

1p21.1

Allele length

Assembly	Allele length
hg38	50147
hg19	50147
hg18	50147
hg17	50147

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1618229, nssv1618218, nssv1618237, nssv1618244, nssv1618225, nssv1618238, nssv1618233, nssv1618221, nssv1618220, nssv1618228, nssv1618243, nssv1618234, nssv1618222, nssv1618226, nssv1618242, nssv1618219, nssv1618240, nssv1618245, nssv1618227, nssv1618231, nssv1618236, nssv1618223, nssv1618239, nssv1618241, nssv1618230, nssv1618232

Samples

NA19222, NA12155, NA19171, NA19137, NA19128, NA19159, NA19200, NA19120, NA12753, NA19152, NA18859, NA18871, NA19221, NA19202, NA19154, NA12239, NA19099, NA18914, NA11881, NA18517, NA10859, NA18913, NA19100, NA12873, NA12763, NA19173

Known Genes

ACTG1P4, AMY2B

Method

SNP array

Analysis

We used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.

Platform

[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array

Comments

Reference

McCarroll_et_al_2008

Pubmed ID

18776908

Accession Number(s)

nsv442937

Frequency

Sample Size	270
Observed Gain	26
Observed Loss	0
Observed Complex	0
Frequency	n/a