Variant Details

Variant: nsv442669

Internal ID

15154702

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr13:43025412..43028957	hg38	UCSC Ensembl
Inner	chr13:43599548..43603093	hg19	UCSC Ensembl
Inner	chr13:42497548..42501093	hg18	UCSC Ensembl
Inner	chr13:42497548..42501093	hg17	UCSC Ensembl

Cytoband

13q14.11

Allele length

Assembly	Allele length
hg38	3546
hg19	3546
hg18	3546
hg17	3546

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1646026, nssv1646005, nssv1646003, nssv1646009, nssv1646030, nssv1646016, nssv1645994, nssv1645991, nssv1646008, nssv1646011, nssv1645997, nssv1646028, nssv1646013, nssv1646006, nssv1646020, nssv1646002, nssv1646025, nssv1646018, nssv1646012, nssv1646017, nssv1645996, nssv1645998, nssv1646007, nssv1646010, nssv1646014, nssv1646021, nssv1646001, nssv1646022, nssv1645992, nssv1646027, nssv1645993, nssv1646019, nssv1646024, nssv1645999, nssv1646000, nssv1645995, nssv1646029, nssv1646004, nssv1646023, nssv1646015

Samples

NA18998, NA18947, NA18561, NA18603, NA18959, NA18526, NA18633, NA18969, NA18967, NA18940, NA18558, NA18582, NA19130, NA18949, NA18970, NA18966, NA18973, NA18605, NA18529, NA18976, NA18948, NA18981, NA19208, NA18566, NA19000, NA18945, NA18974, NA19003, NA19206, NA18961, NA18952, NA18564, NA18992, NA18943, NA18594, NA18987, NA18552, NA18623, NA18622, NA18620

Known Genes

DNAJC15

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)

nsv442669

Frequency

Sample Size	270
Observed Gain	40
Observed Loss	0
Observed Complex	0
Frequency	n/a