Variant Details

Variant: nsv442436

Internal ID

15501155

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:12791219..12795017	hg38	UCSC Ensembl
Inner	chr8:12648728..12652526	hg19	UCSC Ensembl
Inner	chr8:12693099..12696897	hg18	UCSC Ensembl
Inner	chr8:12693099..12696897	hg17	UCSC Ensembl

Cytoband

8p23.1

Allele length

Assembly	Allele length
hg38	3799
hg19	3799
hg18	3799
hg17	3799

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1636973, nssv1637017, nssv1636956, nssv1637019, nssv1636977, nssv1636976, nssv1636964, nssv1636958, nssv1637009, nssv1636955, nssv1637030, nssv1636957, nssv1636969, nssv1637008, nssv1636967, nssv1636990, nssv1636999, nssv1637000, nssv1637004, nssv1636961, nssv1636959, nssv1637010, nssv1637007, nssv1636991, nssv1636980, nssv1636968, nssv1636978, nssv1636996, nssv1637002, nssv1636987, nssv1637014, nssv1636983, nssv1636974, nssv1636972, nssv1636971, nssv1636988, nssv1637026, nssv1636992, nssv1637001, nssv1637006, nssv1636986, nssv1637005, nssv1637025, nssv1636963, nssv1637015, nssv1637029, nssv1637011, nssv1637003, nssv1637024, nssv1637020, nssv1637023, nssv1636982, nssv1636981, nssv1636989, nssv1637027, nssv1636960, nssv1637013, nssv1636979, nssv1636998, nssv1637021, nssv1637016, nssv1636975, nssv1636984, nssv1636985, nssv1637012, nssv1636970, nssv1637028, nssv1636966, nssv1637018, nssv1636994, nssv1636997, nssv1636993, nssv1636962, nssv1637022, nssv1636995, nssv1636965

Samples

NA18998, NA12717, NA11830, NA18947, NA11995, NA11829, NA12814, NA18524, NA18603, NA18545, NA07029, NA12801, NA12146, NA18959, NA18526, NA07357, NA12813, NA19171, NA19005, NA18550, NA12812, NA10854, NA12891, NA18942, NA07048, NA18582, NA18964, NA06993, NA18611, NA12761, NA12005, NA18970, NA12044, NA18966, NA12815, NA18975, NA18973, NA19200, NA19007, NA10847, NA18951, NA12752, NA12003, NA12872, NA18637, NA18579, NA18572, NA18948, NA18981, NA19202, NA11840, NA12892, NA18532, NA12145, NA12707, NA12144, NA10856, NA18858, NA18945, NA18974, NA18576, NA12043, NA18608, NA18953, NA12864, NA18540, NA18913, NA12873, NA10861, NA06994, NA18971, NA18609, NA07000, NA07034, NA18612, NA18620

Known Genes

LINC00681, LOC340357

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)

nsv442436

Frequency

Sample Size	270
Observed Gain	0
Observed Loss	76
Observed Complex	0
Frequency	n/a